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Dihydropyridine Receptor Congenital Myopathy In A Consangineous Turkish Family

Dihydropyridine receptor congenital myopathy is a recently described congenital myopathy caused by dominant or recessive mutations in the CACNA1S gene. To date, only 11 cases from 7 families were described in a single report. Here, we describe a consanguineous family with three affected children, pr...

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Dettagli Bibliografici
Pubblicato in:J Neuromuscul Dis
Autori principali: Yiş, Uluç, Hiz, Semra, Güneş, Sezgin, Diniz, Gülden, Baydan, Figen, Töpf, Ana, Sonmezler, Ece, Lochmüller, Hanns, Horvath, Rita, Oktay, Yavuz
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2019
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6736676/
https://ncbi.nlm.nih.gov/pubmed/31227654
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3233/JND-190383
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