General Neurology
Neurologic manifestations of celiac disease and gluten sensitivity
Jan. 04, 2024
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Muscle biopsy in LGMD type 2I (2)
(Fukutin related protein muscular dystrophy, FKRP) Alpha-dystroglycan immunohistochemical stain (A) reveals markedly decreased or absent immunoreactivity in most muscle fibers. FKRP encodes a putative glycosyltransferase protein that is involved in alpha-dystroglycan glycosylation; alpha-dystroglycan levels are reduced in this condition. Reactivity for beta dystroglycan in the same patient is preserved (B). (Contributed by Dr. Andrew Waclawik.)
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Disorders
- Becker muscular dystrophy
- CIDP
- Charcot-Marie-Tooth disease
- Duchenne muscular dystrophy
- Kearns-Sayre syndrome
- Kugelberg-Welander disease
- MELAS
- MERRF
- McArdle disease
- Miyoshi distal myopathy
- NARP
- Nonaka distal myopathy
- Stormorken syndrome
- Welander distal myopathy
- Werdnig-Hoffman disease
- acid maltase deficiency
- amyloidosis
- carnitine palmitoyltransferase deficiency
- central core disease
- centronuclear myopathy
- congenital fiber-type disproportion
- cysticercosis
- denervation atrophy
- dermatomyositis
- facioscapulohumeral muscular dystrophy
- hereditary neuropathy with pressure palsy
- inclusion-body myositis
- leprous neuropathy
- limb-girdle muscular dystrophy
- myotubular myopathy
- nemaline rod myopathy
- peripheral nerve vasculitis
- polymyositis
- progressive external ophthalmoplegia
- sarcoid myopathy
- sarcoid neuropathy
- spinal muscular atrophy
- toxoplasmosis
- trichinellosis
- tubular aggregates myopathy