Key result
A de novo p.Pro209Leu mutation in BAG3 presented with a prominent neuropathic phenotype resembling Charcot-Marie-Tooth disease, without cardiac or respiratory involvement in a 13-year-old girl.
Case Report (n=1)
Highlights the phenotypic variability of BAG3 myopathy, which can present with a prominent neuropathic phenotype without early cardiac involvement.
BAG3 testing warrants consideration in CMT-like neuropathy without early cardiac involvement; extends phenotypic spectrum but leaves open genotype-phenotype correlations.
Bcl-2-associated athanogene 3 (BAG3) myopathy is a rare myofibrillar myopathy characterized by toe walking and clumsiness in the first decade with rapid progression to cardiomyopathy and restrictive lung disease in the second decade. Most patients (18 patients) have the c.626C >T (p.Pro209Leu) mutation. We describe BAG3 myopathy due to p.Pro209Leu in a 13-year-old girl with initial prominent neuropathic phenotype and no cardiac or respiratory involvement. Parents reported toe walking and clumsiness since 3 years old. Examination at the age of 13 years showed findings suggestive of Charcot-Marie-Tooth disease. Nerve conduction studies revealed demyelinating polyneuropathy. Next-generation sequencing panel for inherited neuropathies was unrevealing. Whole exome sequencing identified a de novo mutation in BAG3. Muscle biopsy confirmed myofibrillar myopathy. No cardiac involvement or symptoms of respiratory involvement at the age of 14 years. This case emphasizes the phenotypic variability of BAG3 myopathy and the importance of thorough electrophysiological examination and muscle pathology for establishing a precise diagnosis.
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Malatesta et al. (2020) conducted a case report in BAG3 myopathy (n=1). p.Pro209Leu mutation in BAG3 was evaluated on Phenotypic presentation. A de novo p.Pro209Leu mutation in BAG3 presented with a prominent neuropathic phenotype resembling Charcot-Marie-Tooth disease, without cardiac or respiratory involvement in a 13-year-old girl.
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