Abstract
Recessive mutations in the ANO5 gene have recently been identified in patients with either limb girdle muscular dystrophy type 2L (LGMD2L) or Miyoshi-like Myopathy (MMD3), collectively called anoctaminopathies. Our cohort of patients with anoctaminopathy shows a predominantly proximal pattern of weakness affecting the pelvic girdle and the lower limbs. Variable distal involvement is also observed, and sometimes presents as the first or predominant feature, similar to Miyoshi Myopathy. The upper extremities are affected only late in the disease process, usually with selective M.
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
