التفاصيل البيبلوغرافية
| العنوان: |
Further evidence of muscle involvement in neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy. |
| المؤلفون: |
Majethia, Purvi, Do Rosario, Michelle C., Kaur, Parneet, Karanvir, Shankar, Raagul, Sharma, Suvasini, Siddiqui, Shahyan, Shukla, Anju |
| المصدر: |
Annals of Human Genetics; Mar2022, Vol. 86 Issue 2, p94-101, 8p |
| مصطلحات موضوعية: |
CEREBRAL atrophy, SPASTICITY, NEURAL development, EPILEPSY, FACIAL abnormalities, SUDDEN death |
| مستخلص: |
TRAPPC4‐related neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy (MIM# 618741) is a recently described TRAPPopathy with clinical findings of developmental delay, seizures, postnatal microcephaly, spasticity, facial dysmorphism, and cerebral and cerebellar atrophy. Muscle involvement, a frequent finding in TRAPPopathies, was observed in one individual with TRAPPC4‐related disorder previously. Only a single variant, an in‐frame deletion in one family has been reported outside a recurrent disease‐causing variant. We report three individuals from two Indian families harboring novel bi‐allelic missense variants c.191T>C and c.278C>T (NM_016146.6) in TRAPPC4 with classic clinical presentation in one and milder and later onset in the other family. We provide further evidence for muscle involvement and review the detailed phenotypic findings in individuals reported with this disorder till date. [ABSTRACT FROM AUTHOR] |
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| قاعدة البيانات: |
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