TY  - JOUR
AU  - Cabrera-Serrano, Macarena
AU  - Junckerstorff, Reimar C
AU  - Alisheri, Ali
AU  - Pestronk, Alan
AU  - Laing, Nigel G
AU  - Weihl, Conrad C
AU  - Lamont, Phillipa J
PY  - 2017
DO  - 10.1016/j.nmd.2017.05.010
UR  - http://hdl.handle.net/10668/11322
T2  - Neuromuscular disorders : NMD
AB  - Nephropathic cystinosis is an autosomal recessive lysosomal disease in which cystine cannot exit the lysosome to complete its degradation in the cytoplasm, thus accumulating in tissues. Some patients develop a distal myopathy involving mainly hand...
LA  - en
KW  - CTNS
KW  - Cystinosis
KW  - Distal myopathy
KW  - Slow myosin
KW  - Amino Acid Transport Systems, Neutral
KW  - Cardiac Myosins
KW  - Cystine
KW  - Cystinosis
KW  - Distal Myopathies
KW  - Family Health
KW  - Female
KW  - Humans
KW  - Male
KW  - Microscopy, Electron
KW  - Middle Aged
KW  - Muscle, Skeletal
KW  - Mutation
KW  - Myosin Heavy Chains
KW  - Myosins
KW  - Young Adult
TI  - Cystinosis distal myopathy, novel clinical, pathological and genetic features.
TY  - research article
VL  - 27
ER  -