Neonatal X-linked myotubular myopathy with a de novo mutation: A case report and literature review. / æ°åçªååºå çæ°çå¿X-è¿éèå°ç®¡èç
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Zhong Nan Da Xue Xue Bao Yi Xue Ban
; 49(3): 491-496, 2024 Mar 28.
Article
en En, Zh
| MEDLINE
| ID: mdl-38970524
ABSTRACT
X-linked myotubular myopathy (XLMTM) is a rare congenital myopathy. In February 2021, a male neonate was admitted to the West China Second University Hospital, Sichuan University, with clinical manifestations of hypotonia, accompanied by distinctive facial features, and requiring continuous ventilatory support. He was born prematurely at 36+2 weeks gestation and developed respiratory distress postnatally, followed by difficulty in weaning from mechanical ventilation. Additional clinical features included hypotonia of the limbs, swallowing dysfunction, and specific facial characteristics (elongated limbs, narrow face, high-arched palate, wrist drop, empty scrotum, elongated fingers/toes). Genetic testing confirmed the diagnosis of XLMTM. Whole-exome sequencing analysis of the family revealed no mutations in the father, paternal grandfather, or paternal grandmother, while the mother had a heterozygous mutation. The pathogenic mutation was identified as MTM1 gene (OMIM 300415), chromosome position chrX-150649714, with a nucleotide change of c.868-2A>C. The patient exhibited typical facial features. Genetic testing is crucial for accurate diagnosis of XLMTM in infants presenting with abnormal muscle tone and distinctive facial features.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Miopatías Estructurales Congénitas
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Proteínas Tirosina Fosfatasas no Receptoras
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Mutación
Límite:
Humans
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Male
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Newborn
Idioma:
En
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Zh
Revista:
Zhong Nan Da Xue Xue Bao Yi Xue Ban
Asunto de la revista:
MEDICINA
Año:
2024
Tipo del documento:
Article