Myopathy with skeletal asymmetry and hemidiaphragm elevation is caused by myotubularin mutations.
The authors report two families with a myopathy phenotype affecting only women, marked by asymmetric weakness, skeletal asymmetry, and an elevated hemidiaphragm. One family had a mutation in a stop codon in exon 9 of the myotubularin gene, and the other had a splice site mutation in exon 13. Both families had manifesting and nonmanifesting carriers. Skewed X-inactivation appeared to explain the clinical manifestations in only one of the two families.
Grogan
P M
PM
Department of Neurology, Stanford University Medical Center, Palo Alto, CA, USA.
Tanner
S M
SM
Ørstavik
K H
KH
Knudsen
G P S
GP
Saperstein
D S
DS
Vogel
H
H
Barohn
R J
RJ
Herbelin
L L
LL
McVey
A L
AL
Katz
J S
JS
D000328:Adult; D001842:Bone and Bones / Q000002:abnormalities*; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D003964:Diaphragm / Q000473:pathology / Q000503:physiopathology*; D005260:Female; D007839:Functional Laterality / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D040582:Inheritance Patterns / Q000235:genetics; D008297:Male; D008875:Middle Aged; D018908:Muscle Weakness / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D009135:Muscular Diseases / Q000150:complications* / Q000235:genetics* / Q000503:physiopathology; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D017027:Protein Tyrosine Phosphatases / Q000235:genetics*; D054558:Protein Tyrosine Phosphatases, Non-Receptor; D049951:X Chromosome Inactivation / Q000235:genetics
D017027:Protein Tyrosine Phosphatases; D054558:Protein Tyrosine Phosphatases, Non-Receptor; C099588:myotubularin