PMID: 9436434Jan 22, 1998Paper

Miyoshi distal muscular dystrophy

Nihon rinsho. Japanese journal of clinical medicine
K Hirabayashi

Abstract

Miyoshi distal muscular dystrophy (MDMD) is a young-adult-onset, autosomal recessive inherited dystrophy initially affecting the plantar flexers. We analysed 12 MDMD families, five with consanguineous marriage, for chromosomal linkage using polymorphic microsatellite DNA markers to map MDMD gene. A significant lod score was obtained with the 2p13 locus D2S291 (Zmax = 15.3 at theta = 0). A gene for autosomal recessive limb-girdle muscular dystrophy 2B (LGMD2B) was also mapped 2p13. The onset was in the late teens with weakness and wasting of the pelvic girdle muscles. Now we cannot exclude the possibility that the cause of these diseases are allelic variants in the same gene. YAC contig of the region was constructed. Scleening for muscle genes in the MDMD region is under way.

Citations

Jan 6, 2000·Clinical Neurology and Neurosurgery·K FukudaT Ishihara
Nov 2, 1999·Neuromuscular Disorders : NMD·J RowinD B Sanders
Jan 25, 2006·Proceedings of the National Academy of Sciences of the United States of America·Josef ParviziAntonio Damasio
Feb 6, 2004·Arquivos de neuro-psiquiatria·Cristiane N SoaresLineu C Werneck
Dec 31, 1997·Italian Journal of Neurological Sciences·C ScoppettaM L Vaccario
Jul 12, 2013·Journal of Neural Transmission·Torsten Kraya, Stephan Zierz

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