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 car...

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Veröffentlicht in:	Clinical genetics 2019-08, Vol.96 (2), p.126-133
Hauptverfasser:	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, René, Voermans, Nicol, Verrips, Aad, Hoogendijk, Jessica E., van der Pol, Ludo, Westra, Dineke, de Visser, Marianne, van der Kooi, Anneke J., Ginjaar, Ieke
Format:	Artikel
Sprache:	eng
Schlagworte:	Creatine kinase Deoxyribonucleic acid DNA DNA sequencing Genetic analysis Heart limb‐girdle muscular dystrophy Mechanical ventilation Miyoshi muscular dystrophy Muscular dystrophy Mutation neurology neuromuscular disorders Sarcoglycanopathy Serum levels
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