Spontaneous gene mutation encounters a paternal genetic variant: Nemaline myopathy: a case report and literature review.
Yan-Fang Zhang, Guo-De Wu, Ya-Zhen Hao et al.
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Case in brief
A 21-year-old man had progressive weakness beginning in the distal lower limbs at age 3, later affecting proximal and masticatory muscles. Electromyography suggested myogenic damage, and muscle MRI showed extensive atrophy and fatty infiltration. Biopsy demonstrated nemaline rods, and genetic testing identified compound heterozygous NEB variants: paternal c.21417 + 3A > G and de novo c.7272G > A. He was diagnosed with nemaline myopathy type 2. Symptomatic treatment produced limited clinical improvement.
What made this case unusual
The case identified a de novo NEB c.7272G > A variant alongside a paternal variant; the report states that it confirms the pathogenicity of c.7272G > A. Masticatory muscle involvement developed during the disease course.
Diagnostic / clinical pearl
In suspected nemaline myopathy, combine clinical assessment with muscle imaging, biopsy, and genetic testing; masticatory muscle weakness may be part of the presentation.
Why it matters
The reported variant adds evidence relevant to NEB genotype–phenotype correlation and genetic counseling.