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Extensive Scanning Of The Calpain-3 Gene Broadens The Spectrum Of Lgmd2A Phenotypes
(B M J Publishing Group, 2005)
Background: The limb girdle muscular dystrophies ( LGMD) are a heterogeneous group of Mendelian disorders highlighted by weakness of the pelvic and shoulder girdle muscles. Seventeen autosomal loci have been so far identified ...
Calpainopathy - A Survey of Mutations and Polymorphisms
(Cell Press, 1999)
Limb-girdle muscular dystrophy-type 2A (LGMD2A) is an autosomal recessive disorder characterized mainly by symmetrical and selective atrophy of the proximal limb muscles. It derives, from defects in the, human CAPN3 gene, ...
Assignment of the Muscle-Eye-Brain Disease Gene to 1P32-P34 by Linkage Analysis and Homozygosity Mapping
(Univ Chicago Press, 1999)
Muscle-eye-brain disease (MEB) is an autosomal recessive disease of unknown etiology characterized by severe mental retardation, ocular abnormalities, congenital muscular dystrophy, and a polymicrogyria-pachygyria-type ...
Giant Axonal Neuropathy Locus Refinement To A < 590 Kb Critical Interval
(Nature Publishing Group, 2000)
Giant axonal neuropathy (GAN) is a rare autosomal recessive neurodegenerative disorder, characterised clinically by the development of chronic distal polyneuropathy during childhood, mental retardation, kinky or curly hair, ...
Identification Of A New Locus For A Peculiar Form Of Congenital Muscular Dystrophy With Early Rigidity Of The Spine, On Chromosome 1P35-36
(Univ Chicago Press, 1998)
Classical congenital muscular dystrophies (CMDs) are autosomal recessive neuromuscular disorders characterized by early onset of hypotonia and weakness, atrophy of limbs and trunk muscles, contractures, and dystrophic ...
Mutations In A Gene Encoding A Novel Sh3/Tpr Domain Protein Cause Autosomal Recessive Charcot-Marie-Tooth Type 4C Neuropathy
(Univ Chicago Press, 2003)
Charcot-Marie-Tooth disease type 4C (CMT4C) is a childhood-onset demyelinating form of hereditary motor and sensory neuropathy associated with an early-onset scoliosis and a distinct Schwann cell pathology. CMT4C is inherited ...
Mutations In Col6A3 Cause Severe And Mild Phenotypes Of Ullrich Congenital Muscular Dystrophy
(Univ Chicago Press, 2002)
Ullrich congenital muscular dystrophy (UCMD) is an autosomal recessive disorder characterized by generalized muscular weakness, contractures of multiple joints, and distal hyperextensibility. Homozygous and compound ...
Mutations In The Gene Encoding Gap Junction Protein Alpha 12 (Connexin 46.6) Cause Pelizaeus-Merzbacher-Like Disease
(Cell Press, 2004)
The hypomyelinating leukodystrophies X-linked Pelizaeus-Merzbacher disease (PMD) and Pelizaeus-Merzbacher like disease (PMLD) are characterized by nystagmus, progressive spasticity, and ataxia. In a consanguineous family ...
Pcr Based Mutation Screening of The Laminin Alpha 2 Chain Gene (Lama2): Application to Prenatal Diagnosis and Search for Founder Effects in Congenital Muscular Dystrophy
(British Med Journal Publ Group, 1998)
Classical congenital muscular dystrophy with merosin deficiency is caused by mutations in the laminin alpha 2 chain gene (LAMA2). Extended sequencing of the introns flanking the 64 LAMA2 exons was carried out and, based ...
Refinement of the Laminin Alpha 2 Chain Locus To Human Chromosome 6Q2 in Severe and Mild Merosin Deficient Congenital Muscular Dystrophy
(British Med Journal Publ Group, 1997)
About half of the children with classical congenital muscular dystrophy (CMD) show an absence in their skeletal muscle of laminin alpha 2 chain, one of the components of the extracellular matrix protein, merosin. Linkage ...