Molecular diagnosis of inheritable neuromuscular disorders. Part I: Genetic determinants of inherited disease and their laboratory detection

Muscle and Nerve

Volumn 31, Issue 4, 2005, Pages 418-430

  Greenberg, Steven A ^a   Walsh, Ronan J ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

Author keywords

Genetic testing; Genetics; Myopathy; Neuromuscular disease; Neuropathy

Indexed keywords

2',3' DIDEOXYNUCLEOSIDE DERIVATIVE; COLLAGEN TYPE 6; CONNECTIN; DNA; DNA FRAGMENT; DOUBLE STRANDED DNA; DYSTROPHIN; GLYCINE TRANSFER RNA LIGASE; MESSENGER RNA; MITOCHONDRIAL DNA; MYOTONIC DYSTROPHY PROTEIN KINASE; PROTEIN; RNA; ZINC FINGER PROTEIN;

ALLELE; CLINICAL LABORATORY; CYTOGENETICS; DENATURING GRADIENT GEL ELECTROPHORESIS; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DIAGNOSTIC ERROR; DIAGNOSTIC PROCEDURE; DNA MICROARRAY; DNA POLYMORPHISM; DNA SEQUENCE; DNA TRANSCRIPTION; DOMINANT INHERITANCE; DYSAUTONOMIA; ENZYME ASSAY; EPIGENETICS; FLUORESCENCE IN SITU HYBRIDIZATION; FOOD AND DRUG ADMINISTRATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; IMMUNOHISTOCHEMISTRY; IMMUNOSUPPRESSIVE TREATMENT; LABORATORY DIAGNOSIS; LIMB GIRDLE MUSCULAR DYSTROPHY; MITOCHONDRIAL DNA DISORDER; MOLECULAR GENETICS; MOLECULAR PROBE; MOSAICISM; MYOPATHY; MYOTONIC DYSTROPHY; NEUROMUSCULAR DISEASE; NORTHERN BLOTTING; POLYACRYLAMIDE GEL ELECTROPHORESIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RECESSIVE INHERITANCE; REIMBURSEMENT; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM; SINGLE STRAND CONFORMATION POLYMORPHISM; SOUTHERN BLOTTING; SPINAL MUSCULAR ATROPHY; WESTERN BLOTTING;

HUMANS; LABORATORIES; MOLECULAR DIAGNOSTIC TECHNIQUES; NEUROMUSCULAR DISEASES;

EID: 15344341470     PISSN: 0148639X     EISSN: None     Source Type: Journal    
DOI: 10.1002/mus.20278     Document Type: Review

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