Abstract：
BACKGROUND: Mutations in the cytoplasmic dynein 1 heavy chain gene (DYNC1H1) have been associated with spinal muscular atrophy with predominant lower extremity involvement (SMA-LED), Charcot-Marie-Tooth 2O (CMT2O) disease, cortical migration anomalies, and autosomal dominant mental retardation13. SMA-LED phenotype-related mutation was found in the DYNC1H1 gene in the patient who applied with the complaint of gait disturbance.
METHODS: Pathogenic heterozygous c.1678G > A (p.Val560Met) mutation was detected in the DYNC1H1 gene by next-generation targeted gene analysis in the patient who had no phenotypic findings except delayed motor milestones, lumbar lordosis, and lower extremity muscle weakness. The patient\'s creatinine phosphokinase enzyme level and brain magnetic resonance imaging (MRI) were normal. Electromyography (EMG) had pure motor findings.
CONCLUSIONS: It should be kept in mind that DYNC1H1 mutation, which we are accustomed to seeing with accompanying findings such as orthopedic and ocular dysmorphic findings, sensorineural EMG findings, and intellectual disability, can also observe with pure motor findings such as muscular dystrophy examination findings.
METHODS: Pathogenic heterozygous c.1678G > A (p.Val560Met) mutation was detected in the DYNC1H1 gene by next-generation targeted gene analysis in the patient who had no phenotypic findings except delayed motor milestones, lumbar lordosis, and lower extremity muscle weakness. The patient\'s creatinine phosphokinase enzyme level and brain magnetic resonance imaging (MRI) were normal. Electromyography (EMG) had pure motor findings.
CONCLUSIONS: It should be kept in mind that DYNC1H1 mutation, which we are accustomed to seeing with accompanying findings such as orthopedic and ocular dysmorphic findings, sensorineural EMG findings, and intellectual disability, can also observe with pure motor findings such as muscular dystrophy examination findings.
摘要：
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