Mutations of the slow muscle alpha-tropomyosin gene, TPM3, are a rare cause of nemaline myopathy.
The alpha-tropomyosin-3 (TPM3) gene was screened in 40 unrelated patients with nemaline myopathy (NM). A single compound heterozygous patient was identified carrying one mutation that converts the stop codon to a serine and a second splicing mutation that is predicted to prevent inclusion of skeletal muscle exon IX. TPM3 mutations are a rare cause of NM, probably accounting for less than 3% of cases. The severity of cases with TPM3 mutations may vary from severe infantile to late childhood onset, slowly progressive forms.
Wattanasirichaigoon
D
D
Genetics Division, Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Swoboda
K J
KJ
Takada
F
F
Tong
H-Q
HQ
Lip
V
V
Iannaccone
S T
ST
Wallgren-Pettersson
C
C
Laing
N G
NG
Beggs
A H
AH
D019943:Amino Acid Substitution; D015153:Blotting, Western; D002648:Child; D002675:Child, Preschool; D018388:Codon, Terminator; D004252:DNA Mutational Analysis; D006801:Humans; D008297:Male; D018657:Muscle Fibers, Slow-Twitch; D018482:Muscle, Skeletal / Q000737:chemistry / Q000473:pathology / Q000503:physiopathology; D020125:Mutation, Missense; D017696:Myopathies, Nemaline / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D017354:Point Mutation; D020033:Protein Isoforms / Q000032:analysis / Q000235:genetics; D012518:Sarcomeres / Q000473:pathology / Q000648:ultrastructure; D014335:Tropomyosin / Q000032:analysis / Q000235:genetics*
D018388:Codon, Terminator; D020033:Protein Isoforms; C498783:TPM3 protein, human; D014335:Tropomyosin