{
  "abstract": "Background The p.R349W variant in the LMNA gene is a very rare pathogenic mutation causing a complex laminopathy syndrome. It leads to Emery-Dreifuss muscular dystrophy type 2 (EDMD2) and additional phenotypes such as partial lipodystrophy, progeroid features, cardiac involvement, metabolic conditions, protein nephropathies such as focal segmental glomerulosclerosis (FSGS), and hearing loss.Case A 40-year-old female was referred with a five-year history of burning pain in the lower extremities in the context of statin use. Her medical history included a heart transplant at age 23 for dilated cardiomyopathy (DCM), renal transplant at age 33 due to FSGS, and progressive hearing loss over the past five years. She also had hypertension, hyperlipidemia, and type 2 diabetes. Her family history included her father with DCM and FSGS, and her daughter, recently diagnosed with DCM. On examination she exhibited progeroid features such as beaked nosed, generalised lipodystrophy with camptocormia and prominent fat deposition in the upper back. Laboratory investigations showed normal CK levels, normal carnitine and acylcarnitine profile, and normal acid alpha-glucosidase activity. Electromyography indicated proximal myopathy with preferential involvement of the paraspinal muscles, without evidence of fibre discontinuity. The statin was discontinued with improvement in her pain. Genetic testing confirmed the LMNA pathogenic mutation (p.R349W variant).Discussion This case underscores the multisystem involvement and variable phenotype of the LMNA p.R349W mutation. Early genetic diagnosis is critical for monitoring cardiac and renal complications and managing other systemic manifestations.",
  "authors": [
    {
      "affiliations": [
        "Department of Neurology, Alfred Health, Melbourne, VIC, Australia"
      ],
      "name": "Jessica Redmond"
    },
    {
      "affiliations": [
        "Department of Neurology, Alfred Health, Melbourne, VIC, Australia"
      ],
      "name": "Edrich Rodrigues"
    }
  ],
  "title": "3658 Emery-dreifuss muscular dystrophy type 2 (EDMD2) and beyond: the complex phenotype of LMNA p.R349W variant mutation",
  "uid": "9316a4d3-b6fe-52b1-a6cb-2b2b8ca56a98"
}