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

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http://hdl.handle.net/10138/302396

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Lehtokari , V-L , Gardberg , M , Pelin , K & Wallgren-Pettersson , C 2018 , ' Clinically variable nemaline myopathy in a three-generation family caused by mutation of the skeletal muscle alpha-actin gene ' , Neuromuscular Disorders , vol. 28 , no. 4 , pp. 323-326 . https://doi.org/10.1016/j.nmd.2017.12.009

Title: Clinically variable nemaline myopathy in a three-generation family caused by mutation of the skeletal muscle alpha-actin gene
Author: Lehtokari, Vilma-Lotta; Gardberg, Maria; Pelin, Katarina; Wallgren-Pettersson, Carina
Contributor: University of Helsinki, Department of Medical and Clinical Genetics
University of Helsinki, Molecular and Integrative Biosciences Research Programme
University of Helsinki, Medicum
Date: 2018-04-01
Language: eng
Number of pages: 4
Belongs to series: Neuromuscular Disorders
ISSN: 0960-8966
URI: http://hdl.handle.net/10138/302396
Abstract: We present here a Finnish nemaline myopathy family with a dominant mutation in the skeletal muscle alpha-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. (C) 2017 Elsevier B.V. All rights reserved.
Subject: 3111 Biomedicine
Nemaline myopathy
Dominant inheritance
Skeletal muscle alpha-actin
Three-generation family
Clinical variability
CONGENITAL MYOPATHY
ACTA1 MUTATION
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