PMID- 10502779
OWN - NLM
STAT- MEDLINE
DCOM- 19991105
LR  - 20081121
IS  - 1059-7794 (Print)
IS  - 1059-7794 (Linking)
VI  - 14
IP  - 4
DP  - 1999
TI  - Identification of novel mutations in the MTM1 gene causing severe and mild forms 
      of X-linked myotubular myopathy.
PG  - 320-5
AB  - X-linked myotubular myopathy (XLMTM) is a congenital muscular disease
      characterized by severe hypotonia and generalized muscle weakness, leading in
      most cases to early postnatal death. The gene responsible for the disease, MTM1, 
      encodes a dual specificity phosphatase, named myotubularin, which is highly
      conserved throughout evolution. To date, 139 MTM1 mutations in independent
      patients have been reported, corresponding to 93 different mutations. In this
      report we describe the identification of 21 mutations (14 novel) in XLMTM
      patients. Seventeen mutations are associated with a severe phenotype in males,
      with death occurring mainly before the first year of life. However, four
      mutations-three missense (R241C, I225T, and novel mutation P179S) and one
      single-amino acid deletion (G294del)-were found in patients with a much milder
      phenotype. These patients, while having a severe hypotonia at birth, are still
      alive at the age of 4, 7, 13, and 15 years, respectively, and display mild to
      moderate muscle weakness.
CI  - Copyright 1999 Wiley-Liss, Inc.
FAU - Buj-Bello, A
AU  - Buj-Bello A
AD  - Institut de Genetique et de Biologie Moleculaire et Cellulaire, CNRS/INSERM/ULP, 
      Illkirch Cedex, France.
FAU - Biancalana, V
AU  - Biancalana V
FAU - Moutou, C
AU  - Moutou C
FAU - Laporte, J
AU  - Laporte J
FAU - Mandel, J L
AU  - Mandel JL
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
RN  - 9007-49-2 (DNA)
RN  - EC 3.1.3.48 (Protein Tyrosine Phosphatases)
RN  - EC 3.1.3.48 (Protein Tyrosine Phosphatases, Non-Receptor)
RN  - EC 3.1.3.48 (myotubularin)
SB  - IM
MH  - Adolescent
MH  - Child
MH  - Chromosome Mapping
MH  - DNA/blood/isolation & purification
MH  - Exons
MH  - Female
MH  - Frameshift Mutation
MH  - Genetic Variation
MH  - Genomic Imprinting
MH  - Humans
MH  - Infant
MH  - Infant, Newborn
MH  - Male
MH  - Muscle, Skeletal/pathology
MH  - *Mutation
MH  - Myopathies, Structural, Congenital/*genetics/physiopathology
MH  - Polymerase Chain Reaction
MH  - Polymorphism, Single-Stranded Conformational
MH  - Protein Tyrosine Phosphatases/*genetics
MH  - Protein Tyrosine Phosphatases, Non-Receptor
MH  - Sequence Deletion
MH  - *X Chromosome
EDAT- 1999/09/30 00:00
MHDA- 1999/09/30 00:01
CRDT- 1999/09/30 00:00
PHST- 1999/09/30 00:00 [pubmed]
PHST- 1999/09/30 00:01 [medline]
PHST- 1999/09/30 00:00 [entrez]
AID - 10.1002/(SICI)1098-1004(199910)14:4<320::AID-HUMU7>3.0.CO;2-O [pii]
AID - 10.1002/(SICI)1098-1004(199910)14:4<320::AID-HUMU7>3.0.CO;2-O [doi]
PST - ppublish
SO  - Hum Mutat. 1999;14(4):320-5. doi:
      10.1002/(SICI)1098-1004(199910)14:4<320::AID-HUMU7>3.0.CO;2-O.