Characterisation of novel point mutations in the survival motor neuron gene SMN, in three patients with SMA.
Hum Genet
; 108(4): 356-7, 2001 Apr.
Article
in En
| MEDLINE
| ID: mdl-11379882
ABSTRACT
We report two novel mutations in three cases of spinal muscular atrophy (SMA), including two distant cousins who followed an unexpectedly severe course. Diagnosis was confirmed by reduced SMN protein and full-length SMN mRNA levels. Sequencing of the non-deleted SMN1 gene revealed a single G insertion at the end of exon 1 in the two cousins and a novel G275S exon 6 missense mutation in the milder case.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Muscular Atrophy, Spinal
/
Point Mutation
/
Nerve Tissue Proteins
Limits:
Child
/
Child, preschool
/
Humans
/
Male
Language:
En
Journal:
Hum Genet
Year:
2001
Document type:
Article
Affiliation country:
United kingdom