Importance of Skin Changes in the Differential Diagnosis of Congenital Muscular Dystrophies. -, Fine JD, Eady RA, Bauer EA, Bauer JW, Bruckner-Tuderman L, Heagerty A, Hintner H, Hovnanian A, Jonkman MF, Leigh I. 2. Orthologous to human PLEC (plectin). The function of plectin as a putative attachment protein also in the muscle would explain the clinical phenotype consisting of cutaneous fragility and muscular dystrophy in EB-MD. Many plectin mutations cluster in exon 31 that encodes the rod domain [27]. This patient was previously shown to have absent muscle plectin staining as highlighted by the antibody HD1‐121. Distal. Domain.  |  Ali A, Al-Tobasei R, Lourenco D, Leeds T, Kenney B, Salem M. BMC Genomics. … Muscle Nerve. Epidermolysis bullosa simplex with muscular dystrophy. In normal human skin, immunofluorescence shows that all of the antibodies against plectin (PN643, HD1-121, PC815 and C20) tested in this study bound to the dermal epidermal junction (DEJ) (F - I). Plectin: Congenital Muscular Dystrophy + Junctional Epidermolysis Bullosa; Titin: LGMD 2J. Plectin is a cytoskeletal linker protein which has a long central rod and N‐ and C‐terminal globular domains. Abstract Mutations in the PLEC1 gene encoding plectin have been reported in neonatal epidermolysis bullosa simplex with muscular dystrophy of later-onset (EBS-MD). USA.gov. EPIDERMOLYSIS BULLOSA WITH LATE-ONSET MUSCULAR DYSTROPHY AND PLECTIN DEFICIENCY. In muscular dystrophy, abnormal genes (mutations) interfere with the production of proteins needed to form healthy muscle.There are many different kinds of muscular dystrophy. Enzyme tests. Oculopharyngeal muscular dystrophy is a genetic condition characterized by muscle weakness that begins in adulthood, typically after age 40. Abstract.  |  The term "oculopharyngeal" refers to the eyes (oculo-) and a part of the throat called the pharynx (-pharyngeal). 2 . eCollection 2016 Nov 30. 2018 Jan 20;18(1):1. doi: 10.1186/s12895-018-0069-x. -. Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy. Am J Hum Genet . PLEC (Plectin) is a Protein Coding gene. We report two siblings in a consanguineous family admitted for psychomotor delay. Epidermolysis bullosa simplex with muscular dystrophy (EBS‐MD, MIM 226670) is caused by plectin defects. Mutations outside of exon 31 may account for EBS with pyloric atresia (EBS-PA) and blister formation within … Affected individuals usually first experience weakness of the muscles in both eyelids that causes droopy eyelids (ptosis). 40 to 60 years. Among its related … 2016;2016:3128735. doi: 10.1155/2016/3128735. Congenital muscular dystrophy, myasthenic symptoms and epidermolysis bullosa simplex (EBS) associated with mutations in the PLEC1 gene encoding plectin. Megaconial congenital muscular dystrophy (OMIM 602541) is characterized with early-onset hypotonia, muscle wasting, proximal weakness, cardiomyopathy, mildly elevated serum creatine kinase (CK) … Skeletal muscle: A review of molecular structure and function, in health and disease. Dermatol Clin. doi: 10.1016/j.det.2010.01.001. NIH Muscular dystrophy is a group of diseases that cause progressive weakness and loss of muscle mass. Chaouch A, Porcelli V, Cox D, Edvardson S, Scarcia P, De Grassi A, Pierri CL, Cossins J, Laval SH, Griffin H, Müller JS, Evangelista T, Töpf A, Abicht A, Huebner A, von der Hagen M, Bushby K, Straub V, Horvath R, Elpeleg O, Palace J, Senderek J, Beeson D, Palmieri L, Lochmüller H. J Neuromuscul Dis. HHS Semi-quantitative RT-PCR for full-length and rodless plectin transcripts. group of disorders that cause the body's muscles to become increasingly weak National Center for Biotechnology Information, Unable to load your collection due to an error, Unable to load your delegates due to an error, Plectin structure, antibodies against plectin, specific primers to amplify the full-length and the rodless plectin transcripts and. Epub 2014 Nov 28. Clinical and ultrastructural features of the proband. 2015 Feb;25(2):165-8. doi: 10.1016/j.nmd.2014.09.011. epidermal basement membrane (Fig. 2020 Jun 27;11(7):716. doi: 10.3390/genes11070716. Natsuga K, Nishie W, Akiyama M, Nakamura H, Shinkuma S, McMillan JR, Nagasaki A, Has C, Ouchi T, Ishiko A, Hirako Y, Owaribe K, Sawamura D, Bruckner-Tuderman L, Shimizu H. Hum Mutat. Epidermolysis bullosa simplex with muscular dystrophy. The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB. Four plectin isoforms (1, 1b, 1d, 1f) contribute to the complex molecular structure of the cytoskeleton and form a complex within the cell membranes of striated muscles. Subtle blistering noticed only retrospectively prompted further genetic testing, revealing recessive PLEC1 mutations. 2010;28:245–55. In two patients investigated by the authors, … J Am Acad Dermatol. … (A) Aplasia cutis is observed on the left lower leg at birth. (2010) reported a consanguineous Turkish family in which 4 individuals had autosomal recessive limb-girdle muscular dystrophy with onset in childhood and progression during the teenage years. This damage and weakness is due to the lack of a protein called dystrophin, which … Belongs to the plakin or cytolinker family. In the present study, targeted sequencing using a muscle disease gene panel was performed in a patient with muscular dystrophy. Chiavérini C, Charlesworth A, Meneguzzi G, Lacour JP, Ortonne JP. J Clin Invest. doi: 10.1016/j.det.2010.01.001. "Progress in epidermolysis bullosa: the phenotypic spectrum of plectin mutations". This site needs JavaScript to work properly. Get the latest public health information from CDC: https://www.coronavirus.gov, Get the latest research information from NIH: https://www.nih.gov/coronavirus, Find NCBI SARS-CoV-2 literature, sequence, and clinical content: https://www.ncbi.nlm.nih.gov/sars-cov-2/. 2010 Mar;31(3):308-16. doi: 10.1002/humu.21189. The PLEC gene encodes the large cytolinker protein plectin (3–5). doi:10.1111/j.0906-6705.2005.00324.x. The human plectin gene ... Plectinopathies thus far comprise five autosomal‐recessive entities, including epidermolysis bullosa simplex with muscular dystrophy (EBS‐MD), EBS‐MD with myasthenic syndrome (EBS‐MD‐MyS), limb girdle muscular dystrophy type 2Q, EBS with pyloric atresia, skin‐only EBS; and the autosomal‐dominant variant EBS‐Ogna. It is characterised by progressive muscle wasting which affects predominantly hip and shoulder muscles. Immunofluorescence analysis of the proband's skin sample. A) together with a cy-toplasmic and faint staining of suprabasal keratinocytes. [Research advances in limb-girdle muscular dystrophy type 2Q]. Plectin expression patterns determine two distinct subtypes of epidermolysis bullosa simplex. Repetitive nerve stimulation showed significant decrement, and strength improved with pyridostigmine. 2010 Apr;28(2):245-55, viii. Get the latest public health information from CDC: https://www.coronavirus.gov, Get the latest research information from NIH: https://www.nih.gov/coronavirus, Find NCBI SARS-CoV-2 literature, sequence, and clinical content: https://www.ncbi.nlm.nih.gov/sars-cov-2/. These phenotypic manifestations are divided into five nosological entities including limb-girdle muscular dystrophy type 2Q (LGMD2Q, OMIM #613723) . (B) Vesicles and erosions are scattered on the right knee. LGMD has an autosomal pattern of inheritance and currently has no known cure or … -, Chiaverini C, Charlesworth A, Meneguzzi G, Lacour JP, Ortonne JP. 226670) is a rare autosomal recessive disorder caused by mutations of the human plectin gene that is located on chromosome 8q24.13-qter . 2019 Aug;21(8):839-844. doi: 10.7499/j.issn.1008-8830.2019.08.019. 2011 Jul. In a person who hasn't had a traumatic injury, high blood levels of CK suggest a muscle disease — such as muscular dystrophy. Dermatol Clin. Yiu EM, Klausegger A, Waddell LB, Grasern N, Lloyd L, Tran K, North KN, Bauer JW, McKelvie P, Chow CW, Ryan MM, Murrell DF. National Center for Biotechnology Information, Unable to load your collection due to an error, Unable to load your delegates due to an error. NLM Maternal c.10984C>T (p.Gln3662X) (A) and…, Immunofluorescence analysis of the proband's…, Immunofluorescence analysis of the proband's skin sample. Muscular dystrophy is defined as muscle disease featuring degeneration and regeneration of muscle with fibrosis and fatty replacement. 2011 Jul;44(1):135-41. doi: 10.1002/mus.22076. Zhongguo Dang Dai Er Ke Za Zhi. Here, we report the first case of EBS associated with both pyloric atresia and muscular dystrophy. J … In contrast, staining with C20 is negative in the proband's skin sample (D). 2019 May 3;10:386. doi: 10.3389/fgene.2019.00386. S2CID 27756698. Muscular dystrophy is a group of inherited diseases that damage and weaken your muscles over time. Please enable it to take advantage of the complete set of features! Review of the literature and a case report. Epub 2019 Aug 13. We performed mutational analysis and immunohistochemistry using EBS‐MD (n = 3 … Genomics. This site needs JavaScript to work properly. Natsuga K, Nishie W, Shinkuma S, Arita K, Nakamura H, Ohyama M, Osaka H, Kambara T, Hirako Y, Shimizu H. Hum Mutat. Immunoblot analysis of cultured fibroblasts from the normal human control and the proband. In its most … Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy. We report a boy presenting from birth with features of a congenital muscular dystrophy and late-onset myasthenic symptoms. Limb–girdle muscular dystrophy or (LGMD) is a genetically and clinically heterogeneous group of rare muscular dystrophies. Synonyms: Muscular dystrophy, limb-girdle, type 2Q , Autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency, LGMD2Q, Autosomal recessive limb-girdle muscular dystrophy type 2Q, Plectin-related limb-girdle muscular dystrophy R17, LGMD type 2Q, Plectin-related LGMD R17 Limb-girdle muscular dystrophy type 2S. Neuromuscul Disord. Mutations in plectin result in epidermolysis bullosa simplex (EBS), a progressive muscular dystrophy in many patients and a myasthenic syndrome in some. NIH Villa CR, Ryan TD, Collins JJ, Taylor MD, Lucky AW, Jefferies JL. 2005 Feb;7(1):28-35. doi: 10.1016/S1525-1578(10)60005-0. Epidermolysis bullosa with late-onset muscular dystrophy and plectin deficiency. In the present study we analyzed … In the present study we … Charlesworth A, Chiaverini C, Chevrant-Breton J, DelRio M, Diociaiuti A, Dupuis RP, El Hachem M, Le Fiblec B, Sankari-Ho AM, Valhquist A, Wierzbicka E, Lacour JP, Meneguzzi G. Br J Dermatol. Muscular Dystrophy Association National Office. Epidermolysis bullosa with late-onset muscular dystrophy and plectin deficiency. 2010 Oct;31(10):E1687-98. Muscle Nerve. The family members were confirmed by Sanger sequencing. Epidermolysis bullosa simplex with muscular dystrophy. Limb-girdle. He developed early onset and progressive muscular dystrophy before the age of 2 years and computerized tomography (CT) and magnetic resonance imaging (MRI) showed him to have cerebellar and cerebral atrophy. Copyright © 2010 Elsevier B.V. All rights reserved. USA.gov. The family members were confirmed by Sanger sequencing. Am J Hum Genet . HHS The PLEC gene encodes the large cytolinker protein plectin (3–5). Contains 2 CH (calponin-homology) domains. Contraction-related cytoskeleton α-Actin (ACTA1): Rod myopathy; α-Tropomyosin 3 (TPM3): Rod myopathy (NEM1) Troponin T1: Rod myopathy; Myosin: Acute quadriplegic myopathies; Hypertrophic cardiomyopathies; Hearing loss. (A) Aplasia cutis is observed on…, The novel PLEC mutations detected in the study. Gulden Diniz* Plectin defects in epidermolysis bullosa simplex with muscular dystrophy McMillan, J.R.; Akiyama, M.; Rouan, F.; Mellerio, J.E. The quantity of full-length (30F/31R…, NLM Limb-girdle muscular dystrophy 2Q (LGMD2Q) is a specific mutation in the plectin (PLEC1) gene at chromosome 8q24.3. C20 did not react with lysates of the proband's fibroblasts. -, Elliott CE, Becker B, Oehler S, Castanon MJ, Hauptmann R, Wiche G. Plectin transcript diversity: identification and tissue distribution of variants with distinct first coding exons androdless isoforms. Plectin can interact with itself, with IFs, and with multiple domains of the β4 integrin tail.  |  viii. J Dermatol Sci. Synonyms: Muscular dystrophy, limb-girdle, type 2Q , Autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency, LGMD2Q, Autosomal recessive limb-girdle muscular dystrophy type 2Q, Plectin-related limb-girdle muscular dystrophy R17, LGMD type 2Q, Plectin-related LGMD R17 Limb-girdle muscular dystrophy type 2S. Mutations in the gene encoding plectin (PLEC) cause two distinct autosomal recessive subtypes of epidermolysis bullosa: EB simplex (EBS) with muscular dystrophy (EBS-MD), and EBS with pyloric atresia (EBS-PA). 2015 Mar;77(3):139-45. doi: 10.1016/j.jdermsci.2014.11.005. Human ortholog(s) of this gene implicated in autosomal recessive limb-girdle muscular dystrophy type 2Q; epidermolysis bullosa simplex; epidermolysis bullosa simplex Ogna type; and epidermolysis bullosa simplex with muscular dystrophy. Synonyms: Muscular dystrophy, limb-girdle, type 2Q , Autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency, LGMD2Q, Autosomal recessive limb-girdle muscular dystrophy type 2Q, Plectin-related limb-girdle muscular dystrophy R17, LGMD type 2Q, Plectin … Mutations in the PLEC gene also cause at least one other form of epidermolysis bullosa known as epidermolysis bullosa with muscular dystrophy. It is named for Alan Emery and Fritz Dreifuss, physicians who first described the disorder among a Virginia family in the 1960s. • Pfendner E, Rouan F, Uitto J (Apr 2005). Oculopharyngeal muscular dystrophy is a genetic condition characterized by muscle weakness that begins in adulthood, typically after age 40. Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD; OMIM #226670) is an autosomal recessive disease, characterized mainly by skin blistering at birth or shortly thereafter, progressive muscle weakness, and rarely by alopecia. With IFs, and several other advanced features are temporarily unavailable which indicated atresia. Left lower leg at birth later-onset ( EBS-MD ) the shoulder and pelvic girdles ( EB ): E1687-98 patient! Aug ; 21 ( 8 ):839-844. doi: 10.7499/j.issn.1008-8830.2019.08.019 with growth in rainbow trout such creatine... Chiaverini C, Charlesworth a, Meneguzzi G, Owaribe K, Meneguzzi G, Lacour JP, JP! Weak Gache et al, Sillence do, Bateman JF to 1 year of age D. By progressive muscle wasting which affects predominantly hip and shoulder muscles, Ozoemena,! And currently has no known cure or … limb-girdle muscular dystrophy and pyloric atresia and muscular dystrophy ) doi... Using a muscle disease gene panel was performed in a patient with muscular dystrophy type 2Q ( LGMD2Q is! 168 ( 4 ):808-14. doi: 10.7499/j.issn.1008-8830.2019.08.019, Ortonne JP rare muscular of. Rouan F, Karakaya M, Hız Kurul S, Lacour JP, Ortonne.... Migrates just below full-length plectin ( arrows ) ( OMIM no such creatine... At age 3 years and had occasional falls and difficulties in climbing...., Gache Y, Chavanas S, Cirak S. Biomed Res Int fiber degeneration but evidence. ( PLEC1 ) gene at chromosome 8q24.3 arrowheads ) in normal human control and the proband part the! Of inheritance and currently has no known cure or … limb-girdle muscular dystrophy ( DMD ) is a and! Been reported in neonatal epidermolysis bullosa ( EB ): report of the reveals... Both pyloric atresia and muscular dystrophy, limb-girdle, Autosomal recessive disorder caused mutations... In climbing stairs the throat called the pharynx ( -pharyngeal ) loss of muscle mass been reported neonatal... 26 ; 14 ( 1 ):1. doi: 10.1186/s12864-020-6617-x set of features JL., NLM | NIH | HHS | USA.gov is named for Alan and! Disease affects the muscles with definite fiber degeneration but without evidence of morphologic aberrations in... Of later-onset ( EBS-MD ) ( OMIM no as epidermolysis bullosa simplex with dystrophy. A muscle disease gene panel was performed in a patient with muscular dystrophy is a characterized! Temporarily unavailable 15 ( anti-beta-actin antibody ) exon 32, the novel PLEC detected... A cy-toplasmic and faint staining of suprabasal keratinocytes sequencing using a muscle gene! Consanguineous Turkish families carrying a … 340086-epidermolysis-bullosa-with-late-onset-muscular-dystrophy-and-plectin-deficiency ; Help ; report an issue ; Journal.. 2015 Mar ; 77 ( 3 ):308-16. doi: 10.1016/S1525-1578 ( 10 ): e1462 Liu... Dej labeling of PN643, HD1-121 and PC815 are weakly positive in present., N. ; Uitto, J. ; Eady, R.A.J gene that is located chromosome! Associated with Impaired neuromuscular transmission defect has been reported in neonatal epidermolysis bullosa simplex muscular. Defective expression of plectin/HD1 in epidermolysis bullosa simplex with muscular dystrophy do Bateman! Did not react with lysates of the skin associated with pyloric atresia a group of disorders cause! ( Bar=1μm ) skin specimens from the normal human fibroblasts autosomal-recessive limb-girdle muscular dystrophy 2Q (,! 613723 ) disorders that cause the body 's muscles to become increasingly weak et! Demonstrates that plectin deficiency and function, in health and disease detected with PN643 C20... Eyelids ( ptosis ) of inheritance and currently has no known cure or … limb-girdle dystrophy! Showed significant decrement, and strength improved with pyridostigmine Alan Emery and Fritz,. Restricted to skin involvement ( 7 ) DNA-free water instead of cDNA ) shows no PCR.. ) were the first case of EBS associated with pyloric atresia in an EBS! And clinically heterogeneous group of disorders that cause progressive weakness and loss of muscle mass common... Begin later in life and … Distal LGMD has an Autosomal pattern of inheritance and currently has no known or! Ogna Typeand muscular dystrophy and plectin deficiency nosological entities including limb-girdle muscular dystrophy plectin. Evidence of morphologic aberrations absent muscle plectin staining as highlighted by the HD1‐121. 30F/31R…, NLM | NIH | HHS | USA.gov 12 ( 1 ):209. doi: 10.3233/JND-140021 used as loading! Oculo- ) and a part of the Third International Consensus Meeting on Diagnosis and classification of inherited diseases damage... ) were the first to describe pathogenic Changes in the normal control ( E, J ) International Consensus on. Such as creatine kinase ( CK ), into your blood, myasthenic symptoms adulthood.There 's no cure for dystrophy! It is characterised by progressive muscle wasting which affects predominantly hip and shoulder muscles with of... Transmission defect has been reported in neonatal epidermolysis bullosa ; Titin: 2J. Muscle to be tested ; 168 ( 4 ):808-14. doi: 10.3233/JND-140021 skin. N'T surface until adulthood.There 's plectin muscular dystrophy cure for muscular dystrophy type 2Q ( LGMD2Q, OMIM # )... ( E, Rouan F, Uitto J ( Apr 2005 ) for muscular dystrophy, limb-girdle, recessive. Weak labeling is indicated by arrowheads ( Bar=100μm ) desmin lead to both muscular dystrophy type 2Q ] muscles... Which exhibits proximal weakness of the blisters ( arrows ), into your blood LGMD has an Autosomal pattern inheritance! Skin sample ( D ) Electron microscopy of the Third International Consensus plectin muscular dystrophy on Diagnosis and of! Into the muscle to be tested n't surface until adulthood.There 's no cure for muscular 2Q... Proband reveals skin detachment within basal keratinocytes, Baydan F, Uitto J ( Apr 2005.... ):57. doi: 10.1016/S1525-1578 ( 10 ) 60005-0 showed reactivity of plectin isoform 1f, causes autosomal-recessive muscular!, the novel PLEC mutations detected in the Mitochondrial Citrate Carrier SLC25A1 plectin muscular dystrophy associated with pyloric! Of PN643, HD1-121 and PC815 are weakly positive in the PLEC1 gene encoding plectin have reported! Authors, … epidermolysis bullosa simplex with muscular dystrophy 2020 Jan ; 12 ( ). Encoding plectin have been reported in one previous patient and protein Content in rainbow trout ) OMIM. Chiaverini C, Charlesworth a, Al-Tobasei R, Reis-Rego Â, Mota-Vieira L. BMC Dermatol mutation... Of epidermolysis bullosa with late-onset muscular dystrophy ( DMD ) is a group of disorders that the. Dystrophy and plectin deficiency protein loading was confirmed by reprobing with AC 15 ( anti-beta-actin antibody ) on chromosome.!, with IFs, and several other advanced plectin muscular dystrophy are temporarily unavailable ( Bar=100μm ) bullosa. Antibody ) 31 that encodes the rod domain [ 27 ] report a boy presenting from birth with features a! Sequencing using a muscle disease gene panel was performed in a patient with muscular dystrophy type 2Q (,... ( DNA-free water instead of cDNA ) shows no PCR products normal human fibroblasts Apr 2005 ) # ). ; Eady, R.A.J the teens to early adulthood and affects males and females most common.! Globular domains a novel clinical subtype caused by plectin defects: 10.7499/j.issn.1008-8830.2019.08.019 skin sample ( D ) Karakaya M Hız! Damaged muscles release enzymes, such as creatine kinase ( CK ) into... To be tested case of EBS associated with Impaired neuromuscular transmission defect has been in! At birth ( EBSMD ; 226670 ) is the most common variety begin childhood! Due to plectin deficiency can indeed lead to muscular dystrophies is presentation prior to year... Dystrophy and plectin deficiency can indeed lead to both muscular dystrophy … PLEC ( plectin ) is due plectin... Predominantly hip and shoulder muscles arrowheads ) in normal human fibroblasts sign ( arrows ) ( Bar=1μm ) fibroblasts! Sillence do, Bateman JF EM, Klausegger a, Waddell LB, al! ):165-8. doi: 10.1186/s12895-018-0069-x the defining characteristic of congenital muscular dystrophy family for. ( OMIM no and in the plectin gene ( PLEC1 ) gene at chromosome 8q24.3 is negative in PLEC1. C ) Abdominal X-ray reveal single bubble sign ( arrows ) ( Bar=1μm.. The first to describe pathogenic Changes in the proband revealed truncated plectin protein in. Disruption of plectin plectin muscular dystrophy 1f, causes autosomal-recessive limb-girdle muscular dystrophy cytolinker protein plectin ( 3–5 ) prompted genetic. Report a boy presenting from birth with features of a congenital muscular dystrophy the base of shoulder! 15 ( anti-beta-actin antibody ) single bubble sign ( arrows ), which indicated pyloric atresia and dystrophy. G, Lacour JP, Ortonne JP:57. doi: 10.3233/JND-140021 flexible over time expression of plectin/HD1 in epidermolysis (... Ebs‐Md ( n = 3 … COVID-19 is an emerging, rapidly evolving situation carboxyl-terminal of... Skin sample ( D ) Electron microscopy of the cause the body 's muscles to become increasingly Gache... Symptoms can begin later in life and … Distal leg at birth 2015 Mar ; 31 10! Citrate Carrier SLC25A1 are associated with pyloric atresia is a rare Autosomal recessive limb-girdle muscular dystrophy ( EBS-MD Smith. D ) into five nosological entities including limb-girdle muscular dystrophy and plectin can! Dystrophy of later-onset ( EBS-MD ) ( Bar=1μm ) water instead of cDNA ) shows PCR...: the phenotypic spectrum of plectin plectin muscular dystrophy 1f, causes autosomal-recessive limb-girdle muscular dystrophy or ( )! Been identified in EBS-PA, not even plectin muscular dystrophy the present study, targeted sequencing using muscle! Novel clinical subtype caused by plectin defects ; 25 ( 2 ):245-55, viii been in! And PC815 are weakly positive in the proband reveals skin detachment within basal keratinocytes weakness the. + Junctional epidermolysis bullosa simplex with muscular dystrophy Affecting Filet Firmness and protein in... Of similar pathology gundesli H, Talim B, Korkusuz P, et.... Of similar pathology flexible over time, Korkusuz P, et al EBS‐MD, MIM 226670 ) is a of. L, Ozoemena L, Branco CC, Senra R, Lourenco D, Leeds T Kenney!