Limb-girdle muscular dystrophies - From genetics to molecular pathology

Neuropathology and Applied Neurobiology

Volumn 30, Issue 2, 2004, Pages 91-105

  Laval, S H ^a   Bushby, K M D ^a  

^a INSTITUTE OF HUMAN GENETICS   (United Kingdom)

Author keywords

Diagnosis; Genetics; Limb girdle muscular dystrophy; Pathology

Indexed keywords

ACTIN; ALPHA ACTIN; ALPHA DYSTROGLYCAN; CALPAIN 3; CAVEOLIN 3; CELL MEMBRANE PROTEIN; CELL PROTEIN; COLLAGEN TYPE 4; CONNECTIN; CYTOSKELETON PROTEIN; DYSFERLIN; DYSTROPHIN; FUKUTIN RELATED PROTEIN; GENE PRODUCT; GLYCAN DERIVATIVE; I KAPPA B; IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; LAMIN A; LAMIN C; MEROSIN; MUSCLE PROTEIN; MYOTILIN; SARCOGLYCAN; SCLEROPROTEIN; TELETHONIN; TROPOMYOSIN; UNCLASSIFIED DRUG;

AGE DISTRIBUTION; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; BIOGENESIS; CYTOLOGY; DIFFERENTIAL DIAGNOSIS; EXCITATION CONTRACTION COUPLING; EXTRACELLULAR MATRIX; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; GENETIC LINKAGE; GLYCOSYLATION; HUMAN; IMMUNOBLOTTING; IMMUNOHISTOCHEMISTRY; LIMB GIRDLE MUSCULAR DYSTROPHY; MOLECULAR GENETICS; MUSCLE ATROPHY; MUSCLE CELL; PATHOPHYSIOLOGY; PELVIS; PRIORITY JOURNAL; PROTEIN DEFICIENCY; PROTEIN FUNCTION; REVIEW; SARCOLEMMA; SHOULDER GIRDLE; SIGNAL TRANSDUCTION; T TUBE; TIBIA;

ANIMALS; HUMANS; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES;

EID: 3142717832     PISSN: 03051846     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1365-2990.2004.00555.x     Document Type: Review

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