Distal myopathy with coexisting heterozygous TIA1 and MYH7 Variants.
Neuromuscul Disord
; 26(8): 511-5, 2016 08.
Article
en En
| MEDLINE
| ID: mdl-27282841
ABSTRACT
TIA1 mutations cause Welander distal myopathy. MYH7 mutations result in various clinical phenotypes, including Laing distal myopathy and cardiomyopathy. We describe a family with coexisting TIA1 and MYH7 variants. The proband is a 67-year-old woman with easy tripping since childhood and progressive asymmetric distal limb weakness, but no cardiac involvement. Muscle biopsy showed rare rimmed vacuoles, minicore-like structures and congophilic inclusions. Her 66-year-old sister has a mild distal myopathy, supraventricular tachycardia and hypertrophic cardiomyopathy. Both sisters carry the only known pathogenic TIA1 mutation and a heterozygous MYH7 variant (c.5459G > A; p.Arg1820Gln). Another sibling with isolated distal myopathy carries only the TIA1 mutation. MYH7 p.Arg1820Gln involves a highly conserved residue and is predicted to be deleterious. Furthermore, the proband's childhood-onset distal leg weakness and sister's cardiomyopathy suggest that MYH7 p.Arg1820Gln likely affects function, favoring a digenic etiology of the myopathy.
Palabras clave
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Cadenas Pesadas de Miosina
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Miosinas Cardíacas
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Miopatías Distales
/
Antígeno Intracelular 1 de las Células T
Tipo de estudio:
Prognostic_studies
Límite:
Aged
/
Female
/
Humans
/
Middle aged
Idioma:
En
Revista:
Neuromuscul Disord
Asunto de la revista:
NEUROLOGIA
Año:
2016
Tipo del documento:
Article
País de afiliación:
Estados Unidos