Genetic Heterogeneity in Miyoshi-type Distal Muscular Dystrophy

Overview

Journal Neuromuscul Disord

Specialty Neurology

Date 1998 Jul 23

PMID 9673985

Citations 8

Authors

W H Linssen

M de Visser

N C Notermans

J P Vreyling

P A van Doorn

J H Wokke

F Baas

P A Bolhuis

Affiliations

Soon will be listed here.

Abstract

Miyoshi-type distal muscular dystrophy (MMD) is an autosomal recessively inherited progressive disorder. The putative locus of MMD is linked to the limb-girdle muscular dystrophy 2B locus on chromosome 2p12-14. In this study three of four MMD pedigrees show non-linkage to the region spanned by D2S134-D2S358-D2S145 on chromosome 2p, indicating genetic heterogeneity. A genome wide screen was performed to identify loci linked to MMD. In two non-chromosome 2-linked families, a 23 cM region on chromosome 10 segregated with MMD.

Citing Articles

Novel Variant in Muscular Dystrophy: Identification by Whole Genome Sequencing and Quad Analysis.

Cuk M, Unal B, Lovrencic L, Walker M, Hayes C, Abraamyan F Genes (Basel). 2024; 15(10).

PMID: 39457424 PMC: 11507210. DOI: 10.3390/genes15101300.

Clinical description of a homozygous Lys 1169* variant in the DYSF gene associated with autosomal recessive Miyoshi muscular dystrophy type 1: A familial case report.

Aguirre A, Romero V Heliyon. 2024; 10(15):e35333.

PMID: 39170343 PMC: 11336582. DOI: 10.1016/j.heliyon.2024.e35333.

Ca-activated Cl channel TMEM16A/ANO1 identified in zebrafish skeletal muscle is crucial for action potential acceleration.

Dayal A, Ng S, Grabner M Nat Commun. 2019; 10(1):115.

PMID: 30631052 PMC: 6328546. DOI: 10.1038/s41467-018-07918-z.

Distal myopathies.

Udd B Curr Neurol Neurosci Rep. 2014; 14(3):434.

PMID: 24477389 DOI: 10.1007/s11910-013-0434-4.

A new distal myopathy with mutation in anoctamin 5.

Mahjneh I, Jaiswal J, Lamminen A, Somer M, Marlow G, Kiuru-Enari S Neuromuscul Disord. 2010; 20(12):791-5.

PMID: 20692837 PMC: 4206776. DOI: 10.1016/j.nmd.2010.07.270.