X-linked myotubular myopathy: clinical observations in ten additional cases

American Journal of Medical Genetics
M JosephGail Herman

Abstract

X-linked myotubular myopathy (XLMTM) is a recessively inherited disorder, lethal to males in the first months of life. Since the first report in 1969, at least 90 cases have been described in the literature. Diagnosis is confirmed by muscle biopsy. Linkage studies have localized the disorder to the Xq28 region, close to the loci for X-linked hydrocephalus and MASA syndrome. We report on 10 additional cases of XLMTM from six different families. In addition to classic clinical features of XLMTM, our patients showed interesting associated findings which included birth length > 90th centile and large head circumference with or without hydrocephalus in 70%, narrow, elongated face in 80%, and slender, long digits in 60% of cases. There was concordance in the occurrence and severity of hydrocephalus in most sib pairs. These features in a "floppy" male infant serve as clues for early clinical diagnosis of XLMTM, which can then be confirmed by muscle biopsy. Development of polyhydramnios was observed in the third trimester of an at-risk dizygotic twin gestation monitored by serial sonography with confirmation of XLMTM at birth.

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References

Jul 1, 1992·Pediatric Pathology·R W TysonS I Goodman
Jan 1, 1991·Neuromuscular Disorders : NMD·S Liechti-GallatiS Braga
May 1, 1991·Journal of the Neurological Sciences·M S De AngelisC Doriguzzi
Apr 1, 1991·American Journal of Medical Genetics·G N BreningstallH G Marks
May 1, 1990·Clinical Genetics·C DarnforsJ Wahlström
Dec 1, 1990·European Journal of Pediatrics·S E BragaH Moser
May 1, 1990·Journal of Medical Genetics·J StarrJ Heckmatt
Feb 1, 1989·Postgraduate Medical Journal·A A McConnellP R Walker
Jul 1, 1988·Acta paediatrica Scandinavica·J C LeGuennecJ Lamarche
Aug 1, 1985·Orthopedics·G Dugan, D A Yngve
Jan 1, 1966·Archives of Neurology·A J SpiroN K Gonatas
Sep 1, 1969·Neurology·G K van WijngaardenA E Meijer
Feb 1, 1993·Pediatric Research·S Liechti-GallatiS Braga

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Citations

May 30, 2001·Pediatric Neurology·N TachiI Watanabe
Aug 31, 1999·Clinical Genetics·B G HäneC E Schwartz
Sep 27, 2008·Orphanet Journal of Rare Diseases·Heinz JungbluthJocelyn Laporte
Aug 1, 1996·Mammalian Genome : Official Journal of the International Mammalian Genome Society·B de GouyonG E Herman
Jan 12, 2010·Prenatal Diagnosis·Chih-Ping ChenWayseen Wang
Jun 19, 2015·Human Gene Therapy. Clinical Development·Jessica M SnyderMartin K Childers
Jan 8, 2015·Frontiers in Aging Neuroscience·Heinz Jungbluth, Mathias Gautel
May 21, 2016·Clinical Genetics·D MassalskaT Roszkowski
Apr 14, 2009·The Journal of School Nursing : the Official Publication of the National Association of School Nurses·Jill A Raymond
Jul 12, 1996·American Journal of Medical Genetics·H A LubsG Neri
Jan 25, 2013·Journal of Clinical Neurology·Eun Hye LeeTae-Sung Ko
May 15, 2015·Human Gene Therapy. Clinical Development·Jessica M SnyderMartin Childers
Jan 2, 2007·Journal of Pediatric Orthopedics·Patrick J CahillRobert J Bielski
Mar 30, 2021·ERJ Open Research·Hui-Leng Tan, Elaine Chan
Apr 30, 2021·World Journal of Pediatrics : WJP·Hong-Fang MeiWen-Hao Zhou

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