Gene: [05q13/SMN1] survival of motor neuron 1, telomeric; spinal muscular atrophy, type I (infantile acute form; Werdnig-Hoffmann disease; MIM:253300); spinal muscular atrophy, type II (intermediate form; MIM:253550); spinal muscular atrophy, type III (juvenile, mild form; Wohlfart-Kugelberg-Welander disease; MIM:253400); [SMA1 SMA2 ]
PAT | In all SMA pathology forms, the spinal anterior corn cells are damaged. Pathogenesis is unknown. Three forms of spinal muscular atrophy are distinguished by onset age and progression rate. The Werdnig-Hoffmann form (I) is the most severe; it begins at the first 6 months of age and leads to death at the age of 2 years. The intermediate (II) form has more mild progression, with onset age between 3 and 15 months; prognosis depends on neuron damage rate. The Kugelberg-Welander form (III) is juvenile; patients can move without assistance." |
HET | X-linked spinal and bulbar muscular atrophy (Kennedy disease) is caused by mutations in the gene for the androgen receptor (see GEM:0Xq12/AR)." |
FOG | The inheritance mode: autosomal recessive. In forms II and III segregation rate is more than the expectable one, that can be caused by incorrect diagnosis." |
REL | GEM:05q13/SMN2. |
REF | LOC,LIN "Brzustowicz LM &: Nature, 344, N6266, 540-541,
1990 CLO,SEQ,GEN "Burglen L &: Genomics, 32, 479-482, 1996 MUT "Burglen L &: Lancet, 346, 316-317, 1995 MUT "Bussaglia E &: Nature Genet, 11, 335-337, 1995 MUT "Cobben JM &: AJHG, 57, 805-808, 1995 LIN,PAT,FOG "Gilliam &: Nature, 345, 82, 1990 MUT "Hahnen E &: Hum Mol Genet, 6, 821-825, 1997 MUT "Hahnen E &: AJHG, 59, 1057-1065, 1996 CLO,SEQ,LOC "Lefebvre S &: Cell, 80, 155-165, 1995 MUT "Matthijs G &: J Med Genet, 33, 469-474, 1996 LOC,LIN "Melki J &: Lancet, 336, 271-273, 1990a LOC,LIN "Melki J &: Nature, 344, 767-768, 1990b MUT "Parsons DW &: Hum Mol Genet, 5, 1727-1732, 1996 MUT "Rodrigues NR &: Hum Mol Genet, 4, 631-634, 1995 FUN "Scharf JM &: Genomics, 38, 405-417, 1996 LIN,PAT,FOG "Sheth P &: AJHG, 48, 764-768, 1991 MUT "Talbot K &: Hum Mol Genet, 6, 497-500, 1997 MUT "van der Steege G &: AJHG, 59, 834-838, 1996 MUT "Wang CH &: Hum Mol Genet, 5, 359-365, 1996 MUT "Wirth B &: Hum Mol Genet, 4, 1273-1284, 1995 |
SWI | SWISSPROT: Q16637 |
KEY | myo, neu |
CLA | coding, basic |
LOC | 05 q13 |
MIM | MIM: 600354 |
SYN | SMA1 SMA2 |
Смотрите также:
