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12 Possible Causes for Most Common Mutation Is Leu276Ile, Onset of Symptoms in First or Second Decade of Life, Shoulder Girdle Weakness

  • Muscular Dystrophy-Dystroglycanopathy Type C5

    […] muscle weakness 0003749 Shoulder girdle muscle weakness Weak shoulder muscles 0003547 Waddling gait 'Waddling' gait Waddling walk [ more ] 0002515 5%-29% of people have these[rarediseases.info.nih.gov] The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation.[icd10data.com] Overall, LGMD2I appears to be one of the most common muscular dystrophies in adult patients, within the range of LGMD2A (calpainopathies), LGMD2B (dysferlinopathies), and[jmg.bmj.com]

  • Limb-Girdle Muscular Dystrophy Type 2L

    […] muscle weakness 0003749 Shoulder girdle muscle weakness Weak shoulder muscles 0003547 Waddling gait 'Waddling' gait Waddling walk [ more ] 0002515 5%-29% of people have these[rarediseases.info.nih.gov] The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation.[icd10data.com] (Phe200_Leu204del)/- Probands negative for CAPN3 mutations (151) were analysed for the most common mutation in the FKRP gene, p.Leu276Ile.[bmcneurol.biomedcentral.com]

  • Limb-Girdle Muscular Dystrophy Type 2E

    shoulder-girdle muscle weakness, particularly affecting the pelvic girdle (adductors and flexors of hip).[orpha.net] The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation.[icd10data.com] (Phe200_Leu204del)/- Probands negative for CAPN3 mutations (151) were analysed for the most common mutation in the FKRP gene, p.Leu276Ile.[bmcneurol.biomedcentral.com]

  • Autosomal Recessive Limb-Girdle Muscular Dystrophy

    […] dystrophy type 2C (LGMD2C) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle[orpha.net] The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation.[icd10data.com] (Phe200_Leu204del)/- Probands negative for CAPN3 mutations (151) were analysed for the most common mutation in the FKRP gene, p.Leu276Ile.[bmcneurol.biomedcentral.com]

  • Limb-Girdle Muscular Dystrophy Type 2J

    The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation.[icd10data.com] An autosomal recessive degenerative myopathy (OMIM:608807) characterised by progressive weakness of the pelvic and shoulder girdle muscles.[medical-dictionary.thefreedictionary.com] (Phe200_Leu204del)/- Probands negative for CAPN3 mutations (151) were analysed for the most common mutation in the FKRP gene, p.Leu276Ile.[bmcneurol.biomedcentral.com]

  • Limb-Girdle Muscular Dystrophy Type 2Q

    […] muscle weakness 0003749 Shoulder girdle muscle weakness Weak shoulder muscles 0003547 Waddling gait 'Waddling' gait Waddling walk [ more ] 0002515 5%-29% of people have these[rarediseases.info.nih.gov] The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation.[icd10data.com] (Phe200_Leu204del)/- Probands negative for CAPN3 mutations (151) were analysed for the most common mutation in the FKRP gene, p.Leu276Ile.[bmcneurol.biomedcentral.com]

  • Muscular Dystrophy-Dystroglycanopathy Type C3

    […] dystrophy type 1B (LGMD1B) is a subtype of autosomal dominant limb girdle muscular dystrophy characterized by a variable age of onset of progressive shoulder and hip girdle[orpha.net] The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation.[icd10data.com] (Phe200_Leu204del)/- Probands negative for CAPN3 mutations (151) were analysed for the most common mutation in the FKRP gene, p.Leu276Ile.[bmcneurol.biomedcentral.com]

  • Muscular Dystrophy-Dystroglycanopathy Type C14

    " because they generally affect the pelvic and shoulder girdles, causing weakness in the muscles in the top part of the arms and shoulders and the hips and thighs.[treat-nmd.eu] The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation.[icd10data.com] (Phe200_Leu204del)/- Probands negative for CAPN3 mutations (151) were analysed for the most common mutation in the FKRP gene, p.Leu276Ile.[bmcneurol.biomedcentral.com]

  • Muscular Dystrophy-Dystroglycanopathy Type C9

    The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation.[icd10data.com] shoulder-girdle muscle weakness, particularly affecting the pelvic girdle (adductors and flexors of hip).[orpha.net] (Phe200_Leu204del)/- Probands negative for CAPN3 mutations (151) were analysed for the most common mutation in the FKRP gene, p.Leu276Ile.[bmcneurol.biomedcentral.com]

  • Limb-Girdle Muscular Dystrophy Type 2A

    Many pathogenic mutations have been identified in calpain3, encoded by the CAPN3 gene, which leads to weakness of the pelvic and shoulder girdle muscles.[uniprot.org] The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation.[icd10data.com] (Phe200_Leu204del)/- Probands negative for CAPN3 mutations (151) were analysed for the most common mutation in the FKRP gene, p.Leu276Ile.[bmcneurol.biomedcentral.com]