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Article

Novel FKRP mutations in a Japanese MDC1C sibship clinically diagnosed with Fukuyama congenital muscular dystrophy.

Brain & development - 1 Nov 2017

Yoshioka Mieko, Kobayashi Kazuhiro, Toda Tatsushi

Abstract excerpt

INTRODUCTION: Fukuyama congenital muscular dystrophy (FCMD), caused by fukutin mutations, is the most common form of Japanese CMD. We followed a Japanese CMD sibship without fukutin mutation, and herein identified new FKRP mutations causing MDC1C rarely reported in Oriental countries. PATIENTS: Two affected siblings, individuals 1 (I-1, male) and 2 (I-2, female), were born uneventfully to unaffected,...

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Source

Identifiers

PMID: 28629604
DOI: 10.1016/j.braindev.2017.05.013

Genes

FKRP

Variants

Provenance

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