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Page 1
Functions of Vertebrate Ferlins.
Bulankina AV, Thoms S. Bulankina AV, et al. Cells. 2020 Feb 25;9(3):534. doi: 10.3390/cells9030534. Cells. 2020. PMID: 32106631 Free PMC article. Review.
Mutations in DYSF (dysferlin) can cause a range of muscle diseases with various clinical manifestations collectively known as dysferlinopathies, including limb-girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi myopathy. A mutation in MYOF (myoferlin) was …
Mutations in DYSF (dysferlin) can cause a range of muscle diseases with various clinical manifestations collectively known as dysferlinopath …
Distal myopathies.
Illa I. Illa I. J Neurol. 2000 Mar;247(3):169-74. doi: 10.1007/s004150050557. J Neurol. 2000. PMID: 10787109 Review.
Distal myopathies are classified according to clinical, histopathological, and genetic patterns into the following: late adult onset type 1, or Welander myopathy, the first recognized distal myopathy with autosomal dominant inheritance and very recently linked to chromosome 2p; l …
Distal myopathies are classified according to clinical, histopathological, and genetic patterns into the following: late adult onset type 1, …
Dysferlinopathies.
Urtizberea JA, Bassez G, Leturcq F, Nguyen K, Krahn M, Levy N. Urtizberea JA, et al. Neurol India. 2008 Jul-Sep;56(3):289-97. doi: 10.4103/0028-3886.43447. Neurol India. 2008. PMID: 18974555 Free article. Review.
Dysferlinopathies encompass a large variety of neuromuscular diseases characterized by the absence of dysferlin in skeletal muscle and an autosomal recessive mode of inheritance. So far, three main phenotypes have been reported: Miyoshi myopathy (MM), limb girdle muscul …
Dysferlinopathies encompass a large variety of neuromuscular diseases characterized by the absence of dysferlin in skeletal muscle and an au …
[Miyoshi distal muscular dystrophy (Miyoshi myopathy)].
Kawai H. Kawai H. Brain Nerve. 2011 Feb;63(2):147-56. Brain Nerve. 2011. PMID: 21301039 Review. Japanese.
We present an overview of autosomal recessive distal muscular dystrophy (ARDMD), including recent molecular genetic findings. ARDMD is often referred to as Miyoshi-type distal muscular dystrophy (MDMD) or Miyoshi myopathy (MM). ...
We present an overview of autosomal recessive distal muscular dystrophy (ARDMD), including recent molecular genetic findings. …
[Mutational and clinical features of Japanese patients with dysferlinopathy (Miyoshi myopathy and limb girdle muscular dystrophy type 2B)].
Aoki M, Takahashi T. Aoki M, et al. Rinsho Shinkeigaku. 2005 Nov;45(11):938-42. Rinsho Shinkeigaku. 2005. PMID: 16447768 Review. Japanese.
Mutations in the dysferlin gene cause both Miyoshi myopathy (MM) and limb girdle muscular dystrophy 2B (LGMD2B). ...The mean maximum serum CK level at any age of the patients was 5,829 +/- 4,273 IU/l (range 1,289-12,566 IU/l ) for MM and 3,787 +/- 2,49 …
Mutations in the dysferlin gene cause both Miyoshi myopathy (MM) and limb girdle muscular dystrophy 2B (LGMD2B). ...The …
Nondystrophinopathic muscular dystrophies including myotonic dystrophy.
Nonaka I, Kobayashi O, Osari S. Nonaka I, et al. Semin Pediatr Neurol. 1996 Jun;3(2):110-21. doi: 10.1016/s1071-9091(96)80040-4. Semin Pediatr Neurol. 1996. PMID: 8795845 Review.
The spectacular progress concerning dystrophin and its pathology, the dystrophinopathies, has led to a somewhat arbitrarily separated heterogeneous group of nondystrophinopathic muscular dystrophies that currently comprise the Emery-Dreifuss type, the nosologically heterog …
The spectacular progress concerning dystrophin and its pathology, the dystrophinopathies, has led to a somewhat arbitrarily separated hetero …
Overview of distal myopathies: from the clinical to the molecular.
Barohn RJ, Amato AA, Griggs RC. Barohn RJ, et al. Neuromuscul Disord. 1998 Jun;8(5):309-16. doi: 10.1016/s0960-8966(98)00030-3. Neuromuscul Disord. 1998. PMID: 9673984 Free article. Review.
Nonaka myopathy is identical to quadriceps-sparing familial inclusion body myopathy; (4) Miyoshi myopathy (early adult onset, type 2), with autosomal recessive inheritance and localization to 2p; (5) Laing myopathy (early onset, type 3), with autosomal dominant inhe …
Nonaka myopathy is identical to quadriceps-sparing familial inclusion body myopathy; (4) Miyoshi myopathy (early adult onset, type 2) …
[Limb-girdle muscular dystrophy; update].
Sunada Y. Sunada Y. Rinsho Shinkeigaku. 2004 Nov;44(11):995-7. Rinsho Shinkeigaku. 2004. PMID: 15651352 Review. Japanese.
Among 1,420 Japanese patients with muscular dystrophy analyzed at NCNP, LGMD is the secondly largest category (19%) following dystrophinopathy (56%). ...Mutations in the dysferlin gene result in Miyoshi distal myopathy and distal anterior compartment myopathy …
Among 1,420 Japanese patients with muscular dystrophy analyzed at NCNP, LGMD is the secondly largest category (19%) following …
[Miyoshi distal muscular dystrophy].
Hirabayashi K. Hirabayashi K. Nihon Rinsho. 1997 Dec;55(12):3190-4. Nihon Rinsho. 1997. PMID: 9436434 Review. Japanese.
Miyoshi distal muscular dystrophy (MDMD) is a young-adult-onset, autosomal recessive inherited dystrophy initially affecting the plantar flexers. ...A significant lod score was obtained with the 2p13 locus D2S291 (Zmax = 15.3 at theta = 0). A ge …
Miyoshi distal muscular dystrophy (MDMD) is a young-adult-onset, autosomal recessive inherited dystrophy initial …
Early onset distal muscular dystrophy.
Kinoshita H, Sugai K, Goto Y, Nonaka I. Kinoshita H, et al. Brain Dev. 1995 May-Jun;17(3):206-9. doi: 10.1016/0387-7604(95)00027-9. Brain Dev. 1995. PMID: 7573762 Review.
The symptoms mimicked those of tibial muscular dystrophy, though the onset of the disease is far earlier than the previously described ones of distal muscular dystrophies. It remains unknown whether this patient has a new type of distal muscular dys …
The symptoms mimicked those of tibial muscular dystrophy, though the onset of the disease is far earlier than the previously d …