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Unusual clinical findings and Complex III deficiency in a family with myotonic dystrophy.

Abstract：

:Myotonic dystrophy type 1 (DM1), an autosomal dominant disease characterized by a CTG expansion in the 3' region of the DMPK gene in chromosome 19, is a highly heterogeneous disease. In this study, we present a family with early onset-classical type DM, and a homogeneous phenotype highlighted by severe neuromuscular symptoms and mental dysfunction with subcortical-type dementia. Neuroradiological abnormalities included brain atrophy, white matter lesions, and basal ganglia calcifications. A very large CTG triplet expansion was present in the DMPK locus in leukocytes in the three patients. One patient showed ragged-red fibers (RRF) and a defect complex III of the respiratory chain, but no mutations were found in the cytochrome b gene of mtDNA.

journal_name

J Neurol Sci

journal_title

Journal of the neurological sciences

authors

Seijo-Martínez M,Castro del Río M,Campos Y,Palau F,Arenas J,Teijeira S,Fernández Hojas R,Navarro C

doi

10.1016/s0022-510x(02)00442-2

subject

Has Abstract

pub_date

2003-04-15 00:00:00

pages

87-91

issue

1-2

eissn

0022-510X

issn

1878-5883

pii

S0022510X02004422

journal_volume

208

pub_type

杂志文章

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