Yonsei Med J.  2011 May;52(3):547-550. 10.3349/ymj.2011.52.3.547.

X-linked Myotubular Myopathy in a Family with Two Infant Siblings: A Case with MTM1 Mutation

• Jeon JH
• Namgung R
• Park MS
• Park KI
• Lee C
• Lee JS
• Kim SH

• KMID: 1777032
• DOI: http://doi.org/10.3349/ymj.2011.52.3.547

Abstract

X-linked myotubular myopathy (XLMTM) is a rare congenital muscle disorder, caused by mutations in the MTM1 gene. Affected male infants present severe hypotonia, and generalized muscle weakness, and the disorder is most often complicated by respiratory failure. Herein, we describe a family with 2 infants with XLMTM which was diagnosed by gene analysis and muscle biopsy. In both cases, histological findings of muscle showed severely hypoplastic muscle fibers with centrally placed nuclei. From the family gene analysis, the Arg486STOP mutation in the MTM1 gene was confirmed.

Keyword

X-linked recessive myotubular myopathy; Centronuclear myopathy; Hypotonia; Polyhydramnios

MeSH Terms

*Codon, Nonsense
Humans
Male
Muscle Hypotonia/genetics/pathology
Myopathies, Structural, Congenital/*genetics/pathology
Pedigree
Protein Tyrosine Phosphatases, Non-Receptor/*genetics

Figure

• 

  Fig. 1 Genetic analysis of the MTM1 mutation. Genetic sequences were examined in all family members. The father's sequence is normal, but the mother shows that she is a carrier. Two case sequences show Arg486STOP, a nonsense mutation. Fortunately, the first female baby's genes are normal.

• 

  Fig. 2 Histological findings of muscle biopsy. (A) Muscle biopsy from patient 1 (IV 4). The HE-stained slide demonstrates central by located nuclei in very high proportion of relatively small myofibers (×200). (B) Muscle biopsy from patient 2 (IV 5). Centrally located nuclei are present (HE ×400).

• 

  Fig. 3 Pedigree of the two brothers. This family tree shows important primary genetic information of these 2 cases. Black, affected; white, unaffected; grey, probably affected by history; question mark, affectation stuatus unknown.

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