A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan

Pervin Dinçer; Burcu Balci; Yeliz Yuva; Beril Talim; Martin Brockington; Deniz Dinçel; Silvia Torelli; Sue Brown; Gülsev Kale; Göknur Haliloglu; Filiz Ozbas Gerçeker; Rengül Cetin Atalay; Cengiz Yakicier; Cheryl Longman; Francesco Muntoni; Haluk Topaloglu

doi:10.1016/s0960-8966(03)00161-5

A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan

Neuromuscul Disord. 2003 Dec;13(10):771-8. doi: 10.1016/s0960-8966(03)00161-5.

Authors

Pervin Dinçer¹, Burcu Balci, Yeliz Yuva, Beril Talim, Martin Brockington, Deniz Dinçel, Silvia Torelli, Sue Brown, Gülsev Kale, Göknur Haliloglu, Filiz Ozbas Gerçeker, Rengül Cetin Atalay, Cengiz Yakicier, Cheryl Longman, Francesco Muntoni, Haluk Topaloglu

Affiliation

¹ Department of Medical Biology, Hacettepe University, Ankara, Turkey.

PMID: 14678799
DOI: 10.1016/s0960-8966(03)00161-5

Abstract

The limb girdle muscular dystrophies are a heterogeneous group of conditions characterized by proximal muscle weakness and disease onset ranging from infancy to adulthood. We report here eight patients from seven unrelated families affected by a novel and relatively mild form of autosomal recessive limb girdle muscular dystrophy (LGMD2) with onset in the first decade of life and characterized by severe mental retardation but normal brain imaging. Immunocytochemical studies revealed a significant selective reduction of alpha-dystroglycan expression in the muscle biopsies. Linkage analysis excluded known loci for both limb girdle muscular dystrophy and congenital muscular dystrophies in the consanguineous families. We consider that this represents a novel form of muscular dystrophy with associated brain involvement. The biochemical studies suggest that it may belong to the growing number of muscular dystrophies with abnormal expression of alpha-dystroglycan.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Adult
Age of Onset
Brain / metabolism
Brain / pathology
Brain / physiopathology
Child
Chromosome Mapping
Cytoskeletal Proteins / biosynthesis
Cytoskeletal Proteins / deficiency*
Cytoskeletal Proteins / genetics
DNA Mutational Analysis
Dystroglycans
Female
Genes, Recessive / genetics*
Genetic Testing
Humans
Immunohistochemistry
Intellectual Disability / complications
Intellectual Disability / genetics*
Intellectual Disability / metabolism
Male
Membrane Glycoproteins / biosynthesis
Membrane Glycoproteins / deficiency*
Membrane Glycoproteins / genetics
Microcephaly / genetics
Microcephaly / pathology
Muscle Proteins / metabolism
Muscle, Skeletal / metabolism
Muscle, Skeletal / pathology
Muscle, Skeletal / physiopathology
Muscular Dystrophies / complications*
Muscular Dystrophies / genetics*
Muscular Dystrophies / metabolism
Turkey

Substances

Cytoskeletal Proteins
DAG1 protein, human
Membrane Glycoproteins
Muscle Proteins
Dystroglycans