PMID- 10466421
OWN - NLM
STAT- MEDLINE
DCOM- 19990930
LR  - 20190816
IS  - 0009-9163 (Print)
IS  - 0009-9163 (Linking)
VI  - 56
IP  - 1
DP  - 1999 Jul
TI  - Germline mosaicism in X-linked myotubular myopathy.
PG  - 77-81
AB  - X-linked myotubular myopathy (XLMTM; OMIM310400) is a congenital muscle disorder 
      characterized by severe hypotonia and respiratory insufficiency. The disorder was
      mapped to Xq28 by linkage studies and the MTM1 gene was isolated by positional
      cloning. The gene product is a 603 amino acid protein named myotubularin. A small
      domain in its sequence shows high homology to a consensus active site of tyrosine
      phosphatases, a diverse class of proteins involved in signal transduction,
      control of cell growth, and differentiation. In this report, two brothers
      affected with XLMTM are shown to have a point mutation (G1187A) in exon 11 of the
      MTM1 gene. Surprisingly, their mother does not have this mutation in her
      lymphocytes. Therefore, she likely has a germline mosaicism. As this is the third
      report of germline mosaicism in XLMTM, the finding has important implications for
      genetic counseling.
FAU - Hane, B G
AU  - Hane BG
AD  - J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, SC
      29646, USA.
FAU - Rogers, R C
AU  - Rogers RC
FAU - Schwartz, C E
AU  - Schwartz CE
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Denmark
TA  - Clin Genet
JT  - Clinical genetics
JID - 0253664
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - Base Sequence
MH  - DNA
MH  - *Genetic Linkage
MH  - *Germ-Line Mutation
MH  - Humans
MH  - Infant, Newborn
MH  - Male
MH  - *Mosaicism
MH  - Muscular Diseases/*genetics
MH  - Polymerase Chain Reaction
MH  - Polymorphism, Single-Stranded Conformational
MH  - *X Chromosome
EDAT- 1999/08/31 00:00
MHDA- 1999/08/31 00:01
CRDT- 1999/08/31 00:00
PHST- 1999/08/31 00:00 [pubmed]
PHST- 1999/08/31 00:01 [medline]
PHST- 1999/08/31 00:00 [entrez]
AID - 10.1034/j.1399-0004.1999.560111.x [doi]
PST - ppublish
SO  - Clin Genet. 1999 Jul;56(1):77-81. doi: 10.1034/j.1399-0004.1999.560111.x.