Carey-Fineman-Ziter Syndrome: A MYMK-Related Myopathy Mimicking Brainstem Dysgenesis.
J Neuromuscul Dis
; 7(3): 309-313, 2020.
Article
en En
| MEDLINE
| ID: mdl-32333597
ABSTRACT
Carey-Fineman-Ziter syndrome is a congenital myopathy associated with mutations in the MYMK gene. It is clinically defined by the combination of hypotonia, Moebius-Robin sequence, facial anomalies and motor delay. Historically it was considered a brainstem dysgenesis syndrome. We provide detailed information of a Spanish boy with compound heterozygous variants in MYMK gene. A muscle biopsy performed as a toddler only disclosed minimal changes, but muscle MRI showed severe fatty infiltration of gluteus muscles and to a lesser extent in adductors magnus, sartorius and soleus muscles. Clinical course is fairly static, but the identification of new well characterized genetic cases will help to delineate the complete phenotype.
Palabras clave
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Síndrome de Pierre Robin
/
Síndrome de Mobius
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Proteínas de la Membrana
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Proteínas Musculares
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Enfermedades Musculares
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Child
/
Humans
/
Male
Idioma:
En
Revista:
J Neuromuscul Dis
Año:
2020
Tipo del documento:
Article
País de afiliación:
España