Dysferlinopathy in Tunisia: clinical spectrum, genetic background and prognostic profile

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• Dysferlinopathy in Tunisia: clinical spectrum, genetic background and prognostic profile September 16, 2023 Neuromuscul Disord. 2023 Aug 18:S0960-8966(23)00692-2. doi: 10.1016/j.nmd.2023.08.007. Online ahead of print.ABSTRACTDysferlinopathy is a rare group of hereditary muscular dystrophy with an autosomal recessive mode of inheritance caused by a mutation in the DYSF gene. It encodes for the dysferlin protein, which has a crucial role in multiple cellular processes, including muscle fiber membrane repair. This deficit has heterogeneous clinical presentations.…
• Dysferlinopathy in Tunisia: clinical spectrum, genetic background and prognostic profile September 16, 2023 Neuromuscul Disord. 2023 Aug 18:S0960-8966(23)00692-2. doi: 10.1016/j.nmd.2023.08.007. Online ahead of print.ABSTRACTDysferlinopathy is a rare group of hereditary muscular dystrophy with an autosomal recessive mode of inheritance caused by a mutation in the DYSF gene. It encodes for the dysferlin protein, which has a crucial role in multiple cellular processes, including muscle fiber membrane repair. This deficit has heterogeneous clinical presentations.…
• Dysferlinopathy in Tunisia: clinical spectrum, genetic background and prognostic profile September 16, 2023 Neuromuscul Disord. 2023 Aug 18:S0960-8966(23)00692-2. doi: 10.1016/j.nmd.2023.08.007. Online ahead of print.ABSTRACTDysferlinopathy is a rare group of hereditary muscular dystrophy with an autosomal recessive mode of inheritance caused by a mutation in the DYSF gene. It encodes for the dysferlin protein, which has a crucial role in multiple cellular processes, including muscle fiber membrane repair. This deficit has heterogeneous clinical presentations.…
• Dysferlinopathy in Tunisia: clinical spectrum, genetic background and prognostic profile September 16, 2023 Neuromuscul Disord. 2023 Aug 18:S0960-8966(23)00692-2. doi: 10.1016/j.nmd.2023.08.007. Online ahead of print.ABSTRACTDysferlinopathy is a rare group of hereditary muscular dystrophy with an autosomal recessive mode of inheritance caused by a mutation in the DYSF gene. It encodes for the dysferlin protein, which has a crucial role in multiple cellular processes, including muscle fiber membrane repair. This deficit has heterogeneous clinical presentations.…
• Dysferlinopathy in Tunisia: clinical spectrum, genetic background and prognostic profile September 16, 2023 Neuromuscul Disord. 2023 Aug 18:S0960-8966(23)00692-2. doi: 10.1016/j.nmd.2023.08.007. Online ahead of print.ABSTRACTDysferlinopathy is a rare group of hereditary muscular dystrophy with an autosomal recessive mode of inheritance caused by a mutation in the DYSF gene. It encodes for the dysferlin protein, which has a crucial role in multiple cellular processes, including muscle fiber membrane repair. This deficit has heterogeneous clinical presentations.…
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