Dihydropyridine Receptor Congenital Myopathy In A Consangineous Turkish Family

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YİŞ U., Hiz S., Gunes S., Diniz G., Baydan F., Topf A., ...Daha Fazla

JOURNAL OF NEUROMUSCULAR DISEASES, cilt.6, sa.3, ss.377-384, 2019 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 6 Sayı: 3
  • Basım Tarihi: 2019
  • Doi Numarası: 10.3233/jnd-190383
  • Dergi Adı: JOURNAL OF NEUROMUSCULAR DISEASES
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.377-384
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

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, presenting congenital hypotonia, contractures, ophthalmoplegia and respiratory insufficiency, with a novel homozygous mutation in the CACNA1S gene. They also showed cognitive delay, pes equinovarus deformity and neurogenic changes that have not been associated with this myopathy in the previous reports. This report expands the phenotypic spectrum of dihydropyridine receptor congenital myopathy and underscores the importance of whole exome sequencing in early onset neuromuscular disorders.