PMID- 10063835
OWN - NLM
STAT- MEDLINE
DCOM- 19990507
LR  - 20191024
IS  - 0960-8966 (Print)
IS  - 0960-8966 (Linking)
VI  - 9
IP  - 1
DP  - 1999 Jan
TI  - Characterization of 34 novel and six known MTM1 gene mutations in 47 unrelated
      X-linked myotubular myopathy patients.
PG  - 41-9
AB  - X-linked myotubular myopathy (XLMTM) is a congenital muscle disorder mainly
      affecting newborn males. Neonatal muscle weakness and hypotonia usually leads to 
      a rapid demise. The responsible gene, MTM1, was isolated in 1996, and mutational 
      data derived from 90 patients have been published. We report on our findings in a
      further 53 patients, using genomic DNA and mRNA screening protocols. Thirty-four 
      novel mutations were identified in 37 cases, and six known mutations found in 10 
      other patients. The 34 new mutations include five large deletions, eight
      nonsense, six frameshift, five missense, and eight splice-site mutations, whereas
      two intronic variants causing partial exon skipping represent the first report on
      such a mechanism in MTM1. Two deletions, one involving exon 1, and the second
      exon 15, are the first defects to be identified in these exons. The heterogeneity
      of the mutations, their mutational origins, and the varied ethnic backgrounds of 
      the patients, indicate that the majority of XLMTM families are affected by unique
      MTM1 mutations.
FAU - Tanner, S M
AU  - Tanner SM
AD  - Human Molecular Genetics, Department of Clinical Research, Children's Hospital,
      University of Berne, Switzerland. tanner-1@medctr.osu.edu
FAU - Schneider, V
AU  - Schneider V
FAU - Thomas, N S
AU  - Thomas NS
FAU - Clarke, A
AU  - Clarke A
FAU - Lazarou, L
AU  - Lazarou L
FAU - Liechti-Gallati, S
AU  - Liechti-Gallati S
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Neuromuscul Disord
JT  - Neuromuscular disorders : NMD
JID - 9111470
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  - Adult
MH  - DNA/genetics
MH  - Exons/genetics
MH  - Female
MH  - Gene Deletion
MH  - Genetic Linkage/*genetics
MH  - Genetic Testing
MH  - Heterozygote
MH  - Humans
MH  - Muscular Diseases/*genetics
MH  - Mutation/*genetics
MH  - Protein Tyrosine Phosphatases/*genetics
MH  - Protein Tyrosine Phosphatases, Non-Receptor
MH  - Reverse Transcriptase Polymerase Chain Reaction
MH  - X Chromosome/*genetics
EDAT- 1999/03/04 00:00
MHDA- 1999/03/04 00:01
CRDT- 1999/03/04 00:00
PHST- 1999/03/04 00:00 [pubmed]
PHST- 1999/03/04 00:01 [medline]
PHST- 1999/03/04 00:00 [entrez]
AID - S0960-8966(98)00090-X [pii]
AID - 10.1016/s0960-8966(98)00090-x [doi]
PST - ppublish
SO  - Neuromuscul Disord. 1999 Jan;9(1):41-9. doi: 10.1016/s0960-8966(98)00090-x.