- Emery–Dreifuss
muscular dystrophy (EDMD) is a type of
muscular dystrophy, a
group of
heritable diseases that
cause progressive impairment of muscles. EDMD...
-
postaxial polydactyly Scalp–ear–nipple
syndrome Scapuloiliac dysostosis Scapuloperoneal myopathy SCARF syndrome Scarlet fever Schaap–Taylor–Baraitser syndrome...
- αB-crystallin —
early - mid
adult (MFM2) AD ZASP— late
adult (MFM4) AD
Scapuloperoneal AD MFM =
myofibrillary myopathy; AD =
autosomal dominant; AR = autosomal...
- calpainopathy),
scapuloperoneal myopathy,
mitochondrial myopathy,
Pompe disease, and polymyositis.
Calpainopathy and
scapuloperoneal myopathy, like FSHD...
-
myopathy with
postural muscle atrophy,
reducing body myopathy, and
scapuloperoneal myopathy), and some
forms of Ehlers–Danlos syndrome.
Tubular aggregate...
- non-progressive, rare,
allelic with
SPSMA and CMT2C
Scapuloperoneal spinal muscular atrophy (SPSMA)
Scapuloperoneal neurogenic amyotrophy 181405 TRPV4 12q24.11...
-
muscular atrophy,
Familial digital arthropathy-brachydactyly (FDAB),
scapuloperoneal spinal muscular atrophy, and
subtype 2C of Charcot–Marie–Tooth disease...
- to
common neuromuscular disorders,
including limb-girdle weakness,
scapuloperoneal dystrophy,
distal myopathy and cardiomyopathy. Both
muscles of upper...
- 269000; ESCO2
Scapuloperoneal myopathy, X-linked dominant; 300695; FHL1
Scapuloperoneal spinal muscular atrophy; 181405; TRPV4
Scapuloperoneal syndrome, myopathic...
- "Alterations in the
ankyrin domain of TRPV4
cause congenital distal SMA,
scapuloperoneal SMA and HMSN2C". Nat. Genet. 42 (2): 160–4. doi:10.1038/ng.508. PMC 3272392...
