The enigma of 7q36 linked autosomal dominant limb girdle muscular dystrophy
Open Access
- 1 August 2010
- journal article
- case report
- Published by BMJ in Journal of Neurology, Neurosurgery & Psychiatry
- Vol. 81 (8), 834-839
- https://doi.org/10.1136/jnnp.2009.192351
Abstract
Introduction Two families with autosomal dominant limb girdle muscular dystrophy (LGMD) have previously been linked to a locus on chromosome 7q36 10 years ago. The locus has been termed both LGMD1D and 1E, but because of lack of additional families to narrow down the linked region of interest, this disease has remained elusive. Methods A large Finnish family was clinically and genetically investigated. Laboratory parameters were determined, including creatine kinase (CK) value, neurographic and electromyography studies, cardiac and respiratory function examinations, muscle biopsies and muscle imaging by CT or MRI. Results Patients had onset of muscle weakness in the pelvic girdle between the fourth and sixth decades with an autosomal dominant pattern of inheritance. CK values were slightly elevated and electromyography was myopathic only. Muscle biopsies showed myopathic and/or dystrophic features with very minor rimmed vacuolation and protein aggregation findings. Molecular genetic analysis indicates linkage of the disease to the locus on chromosome 7q36 completely overlapping with the previously reported locus LGMD1D/E. Discussion Advancement towards the causative gene defect in the 7q36 linked disease needs new additional families to narrow the region of interest. The phenotype in the previously linked families has not been reported in full detail, which may be one reason for the shortage of additional families. A comprehensive clinical and morphological phenotype of chromosome 7q36 linked autosomal dominant LGMD with a restricted and updated 6.4 Mb sized haplotype is reported here.Keywords
This publication has 18 references indexed in Scilit:
- Gene table of monogenic neuromuscular disorder (nuclear genome only)Neuromuscular Disorders, 2008
- EFNS guideline on diagnosis and management of limb girdle muscular dystrophiesEuropean Journal of Neurology, 2007
- A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21European Journal of Human Genetics, 2004
- myotilin Mutation Found in Second Pedigree with LGMD1AAmerican Journal of Human Genetics, 2002
- Identification of a New Autosomal Dominant Limb-Girdle Muscular Dystrophy Locus on Chromosome 7American Journal of Human Genetics, 1999
- Linkage of Familial Dilated Cardiomyopathy with Conduction Defect and Muscular Dystrophy to Chromosome 6q23American Journal of Human Genetics, 1997
- A newly recognized autosomal dominant limb girdle muscular dystrophy with cardiac involvementAnnals of Neurology, 1996
- Diagnostic criteria for the limb-girdle muscular dystrophies: Report of the ENMC consortium on limbgirdle dystrophiesNeuromuscular Disorders, 1995
- Adult‐onset autosomal dominant limb‐girdle muscular dystrophyAnnals of Neurology, 1986
- MUSCULAR DYSTROPHY IN NORTHERN IRELAND I. AN ACCOUNT OF THE CONDITION IN FIFTY-ONE FAMILIESAnnals of Eugenics, 1952