Clinically variable nemaline myopathy in a three-generation family caused by mutation of the skeletal muscle alpha-actin gene.

• 影响指数: 3.538
• 发表时间: 04 2018
• 来源期刊: Neuromuscul Disord
• DOI: 10.1016/j.nmd.2017.12.009
• PMID: 29433794
• 文章类型: Case Reports
• 中科院分区: Q3
• 方向: 医学
• 作者列表: Lehtokari VL,Gardberg M,Pelin K,Wallgren-Pettersson C

关键词: Clinical variability; Dominant inheritance; Nemaline myopathy; Skeletal muscle alpha-actin; Three-generation family

Mesh: Actins / genetics; Child, Preschool; Humans; Male; Muscle, Skeletal / metabolism; Mutation / genetics; Myopathies, Nemaline / diagnosis genetics; Phenotype

Abstract

We present here a Finnish nemaline myopathy family with a dominant mutation in the skeletal muscle α-actin gene, p.(Glu85Lys), segregating in three generations. The index patient, a 5-year-old boy, had the typical form of nemaline myopathy with congenital muscle weakness and motor milestones delayed but reached, while his mother never had sought medical attention for her very mild muscle weakness, and his maternal grandmother had been misdiagnosed as having myotonic dystrophy. This illustrates the clinical variability in nemaline myopathy.