Clinical & genetic analysis of four patients with distal upper limb spinal muscular atrophy

Indian Journal of Medical Research

Volumn 114, Issue OCT., 2001, Pages 141-147

  Hedge, Madhuri R ^a   Chong, Belinda ^a   Stevenson, Catherine ^a   Laing, Nigel G ^a   Khadilkar, Satish ^a   Love, Donald R ^a  

^a UNIVERSITY OF AUCKLAND   (New Zealand)

Author keywords

Distal upper limb SMA; NAIP gene; SMN gene; Spinal monomelic amyotrophy

Indexed keywords

CREATINE KINASE MM; GENOMIC DNA; NERVE PROTEIN; NEURONAL APOPTOSIS INHIBITORY PROTEIN; RESTRICTION ENDONUCLEASE; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGE; ARM MUSCLE; ARTICLE; BIOCHEMISTRY; CASE REPORT; CLINICAL EXAMINATION; COMPARATIVE STUDY; CREATINE KINASE BLOOD LEVEL; DIAGNOSTIC ACCURACY; DISEASE CLASSIFICATION; DISEASE DURATION; ENZYME METABOLISM; EXON; FEMALE; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; HOMOZYGOSITY; HUMAN; MALE; MOLECULAR GENETICS; MOSAICISM; NERVOUS SYSTEM ELECTROPHYSIOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; POLYMERASE CHAIN REACTION; SEX DIFFERENCE; SINGLE STRAND CONFORMATION POLYMORPHISM; SOMATIC CELL; SPINAL CORD MOTONEURON; SPINAL MUSCULAR ATROPHY;

ADOLESCENT; ARM; BASE SEQUENCE; CYCLIC AMP RESPONSE ELEMENT-BINDING PROTEIN; DNA PRIMERS; FEMALE; GENE AMPLIFICATION; GENE DELETION; HUMANS; MALE; MUSCULAR ATROPHY, SPINAL; NERVE TISSUE PROTEINS; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RNA-BINDING PROTEINS;

EID: 0035571461     PISSN: 09715916     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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