Proximal and distal spinal muscular atrophy in one family: Molecular genetic studies provide further evidence for the non-allelic origin of both diseases

Journal of Medical Genetics

Volumn 34, Issue 4, 1997, Pages 340-342

  Spranger, Stephanie ^a   Rudnik Schöneborn, Sabine ^b   Spranger, Matthias ^a   Schächtele, Martina ^c   Zerres, Klaus ^b   Wirth, Brunhilde ^b  

^a UNIVERSITY OF HEIDELBERG   (Germany)

^b UNIVERSITY OF BONN   (Germany)

^c Department of Paediatrics ^*  (Germany)

Author keywords

Distal SMA; Proximal SMA; Spinal muscular atrophy

Indexed keywords

ADULT; ALLELE; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; FEMALE; GENE; HAPLOTYPE; HUMAN; MALE; PRIORITY JOURNAL; SPINAL MUSCULAR ATROPHY;

EID: 0030927757     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.34.4.340     Document Type: Article

References (13)

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