Literature DB >> 9673985

Genetic heterogeneity in Miyoshi-type distal muscular dystrophy.

W H Linssen1, M de Visser, N C Notermans, J P Vreyling, P A Van Doorn, J H Wokke, F Baas, P A Bolhuis.   

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.

Entities:  

Mesh：

Year:  1998        PMID： 9673985     DOI： 10.1016/s0960-8966(98)00020-0

Source DB:  PubMed          Journal:  Neuromuscul Disord        ISSN： 0960-8966            Impact factor:   4.296


  6 in total

1.  A new distal myopathy with mutation in anoctamin 5.

Authors:  Ibrahim Mahjneh; Jyoti Jaiswal; Antti Lamminen; Mirja Somer; Gareth Marlow; Sari Kiuru-Enari; Rumaisa Bashir
Journal:  Neuromuscul Disord       Date:  2010-08-07       Impact factor: 4.296

2.  Lack of cytosolic and transmembrane domains of type XIII collagen results in progressive myopathy.

Authors:  A P Kvist; A Latvanlehto; M Sund; L Eklund; T Väisänen; P Hägg; R Sormunen; J Komulainen; R Fässler; T Pihlajaniemi
Journal:  Am J Pathol       Date:  2001-10       Impact factor: 4.307

3.  Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1).

Authors:  Christopher Meredith; Ralf Herrmann; Cheryl Parry; Khema Liyanage; Danielle E Dye; Hayley J Durling; Rachael M Duff; Kaye Beckman; Marianne de Visser; Maaike M van der Graaff; Peter Hedera; John K Fink; Elizabeth M Petty; Phillipa Lamont; Vicki Fabian; Leslie Bridges; Thomas Voit; Frank L Mastaglia; Nigel G Laing
Journal:  Am J Hum Genet       Date:  2004-08-20       Impact factor: 11.025

4.  Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies.

Authors:  Véronique Bolduc; Gareth Marlow; Kym M Boycott; Khalil Saleki; Hiroshi Inoue; Johan Kroon; Mitsuo Itakura; Yves Robitaille; Lucie Parent; Frank Baas; Kuniko Mizuta; Nobuyuki Kamata; Isabelle Richard; Wim H J P Linssen; Ibrahim Mahjneh; Marianne de Visser; Rumaisa Bashir; Bernard Brais
Journal:  Am J Hum Genet       Date:  2010-01-21       Impact factor: 11.025

Review 5.  Distal myopathies.

Authors:  Bjarne Udd
Journal:  Curr Neurol Neurosci Rep       Date:  2014-03       Impact factor: 5.081

6.  Ca2+-activated Cl- channel TMEM16A/ANO1 identified in zebrafish skeletal muscle is crucial for action potential acceleration.

Authors:  Anamika Dayal; Shu Fun J Ng; Manfred Grabner
Journal:  Nat Commun       Date:  2019-01-10       Impact factor: 14.919
  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.