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Two siblings with nemaline myopathy presenting with rigid spine syndrome.
Neuromuscul Disord. 1994 May;4(3):263-7. doi: 10.1016/0960-8966(94)90028-0.
Neuromuscul Disord. 1994.
PMID: 7919974
Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36.
Moghadaszadeh B, Desguerre I, Topaloglu H, Muntoni F, Pavek S, Sewry C, Mayer M, Fardeau M, Tomé FM, Guicheney P.
Moghadaszadeh B, et al.
Am J Hum Genet. 1998 Jun;62(6):1439-45. doi: 10.1086/301882.
Am J Hum Genet. 1998.
PMID: 9585610
Free PMC article.
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Familial autosomal recessive rigid spine syndrome with neurogenic facio-scapulo-peroneal muscle atrophy.
Palmucci L, Mongini T, Doriguzzi C, Maniscalco M, Schiffer D.
Palmucci L, et al.
J Neurol Neurosurg Psychiatry. 1991 Jan;54(1):42-5. doi: 10.1136/jnnp.54.1.42.
J Neurol Neurosurg Psychiatry. 1991.
PMID: 2010758
Free PMC article.
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