Discordant clinical outcome in type III spinal muscular atrophy sibships showing the same deletion pattern

Neuromuscular Disorders

Volumn 6, Issue 4, 1996, Pages 261-264

  Capon, F ^a   Levato, C ^a   Merlini, L ^b   Angelini, C ^c   Mostacciuolo, M L ^c   Politano, L ^d   Novelli, G ^a,e   Dallapiccola, B ^a,f  

^a UNIVERSITY OF ROME TOR VERGATA   (Italy)

^b RIZZOLI ORTHOPAEDIC INSTITUTE   (Italy)

^c UNIVERSITY OF PADOVA   (Italy)

^d UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^e UNIVERSITY OF CHIETI   (Italy)

^f CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

Author keywords

Genotype phenotype correlation; NAIP; SMN; Spinal muscular atrophy

Indexed keywords

MICROSATELLITE DNA;

ADULT; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE SEVERITY; FASCICULATION; FEMALE; GENE DELETION; GENE LOCUS; HAPLOTYPE; HUMAN; HUMAN TISSUE; MALE; MULTIGENE FAMILY; MUSCLE WEAKNESS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SIBLING; SPINAL MUSCULAR ATROPHY; SYMPTOM; TREMOR; WHEELCHAIR;

EID: 0030220199     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/0960-8966(96)00350-1     Document Type: Article

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