Molecular basis of spinal muscular atrophy in Chinese

Journal Article · Fri Dec 01 00:00:00 EST 1995 · American Journal of Human Genetics

OSTI ID:186221

Chang, J G; Jong, Y J; Huang, J M ^[1]

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1. Taipei Municipal Jen-Ai Hospital, Kaohsiung (Taiwan, Province of China); and others

Proximal spinal muscular atrophy (SMA) is an autosomal recessive disorder that is characterized by degeneration of the anterior horn cells, leading to symmetrical muscle weakness and wasting of voluntary muscles. SMA affects 1/10,000 live births and has an estimated carrier frequency of 1/40. Affected individuals are classified into three groups, depending on the age at onset and progression of the disease, and all three forms of SMA are linked to the same set of genetic markers in the chromosome. 15 refs., 3 figs.

• OSTI ID: 186221
• Journal Information: American Journal of Human Genetics, Vol. 57, Issue 6; Other Information: PBD: Dec 1995
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
DISEASES
DISEASE INCIDENCE
GENES
MUSCLES
ATROPHY
CHINA
HUMAN POPULATIONS
HEREDITARY DISEASES
HUMAN CHROMOSOME 5
GENETIC MAPPING
TRANSCRIPTION
GENE MUTATIONS
RECESSIVE MUTATIONS
BIOLOGICAL MARKERS
POLYMERASE CHAIN REACTION
EXONS