Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands:The clinical and molecular spectrum of 244 patients

In this retrospective study, we conducted a clinico-genetic analysis of patients with autosomal recessive limb-girdle muscular dystrophy (LGMD) and Miyoshi muscular dystrophy (MMD). Patients were identified at the tertiary referral centre for DNA diagnosis in the Netherlands and included if they carried two mutations in CAPN3, DYSF, SGCG, SGCA, SGCB, SGCD, TRIM32, FKRP or ANO5 gene. DNA was screened by direct sequencing and multiplex ligand-dependent probe amplification (MLPA) analysis. A total of 244 patients was identified; 68 LGMDR1/LGMD2A patients with CAPN3 mutations (28%), 67 sarcoglycan... Mehr ...

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Verfasser: ten Dam, Leroy
Frankhuizen, Wendy S.
Linssen, Wim H. J. P.
Straathof, Chiara S.
Niks, Erik H.
Faber, Karin
Fock, Annemarie
Kuks, Jan B.
Brusse, Esther
de Coo, Rene
Voermans, Nicol
Verrips, Aad
Hoogendijk, Jessica E.
van Der Pol, Ludo
Westra, Dineke
de Visser, Marianne
van der Kooi, Anneke J.
Ginjaar, Ieke
Dokumenttyp: Artikel
Erscheinungsdatum: 2019
Reihe/Periodikum: ten Dam , L , Frankhuizen , W S , Linssen , W H J P , Straathof , C S , Niks , E H , Faber , K , Fock , A , Kuks , J B , Brusse , E , de Coo , R , Voermans , N , Verrips , A , Hoogendijk , J E , van Der Pol , L , Westra , D , de Visser , M , van der Kooi , A J & Ginjaar , I 2019 , ' Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands : The clinical and molecular spectrum of 244 patients ' , Clinical Genetics , vol. 96 , no. 2 , pp. 126-133 . https://doi.org/10.1111/cge.13544
Schlagwörter: limb-girdle muscular dystrophy / Miyoshi muscular dystrophy / neurology / neuromuscular disorders / ANOCTAMIN 5 / DUTCH PATIENTS / FOLLOW-UP / PREVALENCE / MUTATIONS / DIAGNOSIS / COHORT / GUIDELINE / PHENOTYPE / FREQUENCY
Sprache: Englisch
Permalink: https://search.fid-benelux.de/Record/base-27440138
Datenquelle: BASE; Originalkatalog
Powered By: BASE
Link(s) : https://cris.maastrichtuniversity.nl/en/publications/9864c16d-489e-4ae3-a6a0-fd5f8a4c918e

In this retrospective study, we conducted a clinico-genetic analysis of patients with autosomal recessive limb-girdle muscular dystrophy (LGMD) and Miyoshi muscular dystrophy (MMD). Patients were identified at the tertiary referral centre for DNA diagnosis in the Netherlands and included if they carried two mutations in CAPN3, DYSF, SGCG, SGCA, SGCB, SGCD, TRIM32, FKRP or ANO5 gene. DNA was screened by direct sequencing and multiplex ligand-dependent probe amplification (MLPA) analysis. A total of 244 patients was identified; 68 LGMDR1/LGMD2A patients with CAPN3 mutations (28%), 67 sarcoglycanopathy patients (LGMDR3-5/LGMD2C-E) (27%), 64 LGMDR12/LGMD2L and MMD3 patients with ANO5 mutations (26%), 25 LGMDR2/LGMD2B and MMD1 with DYSF mutations (10%), 21 LGMDR9/LGMD2I with FKRP mutations (9%) and one LGMDR8/LGMD2H patient with TRIM32 mutations (