2Wu S, Ibarra MC, Malicdan MC, et al. Central core disease is due to RYR1 mutations in more than 90% of patients[J]. Brain, 2006,129(Pt 6) :1470-1480.
3Ferreiro A,Monnier N,Romero NB, et al. A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene[J]. Ann Neurol,2002,51 (6) : 750-759.
4Agrawal PB, Greenleaf RS, Tomczak KK, et al. Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2 [J]. Am J Hum Genet,2007,80(1) :162-167.
5Jungbluth H, Zhou H, Sewry CA, et al. Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene[J]. Neuromuscul Disord,2007,17(4) : 338-345.
6Clarke NF, Kidson W, Quijano-Roy S, et al. SEPN1 : associated with congenital fiber-type disproportion and insulin resistance [J]. Ann Neurol,2006,59(3) :546-552.
7Tajsharghi H,Thornell LE, Lindberg C, et al. Myosin storage myopathy associated with a heterozygous missense mutation in MYHT[J]. Ann Ncuroi,2003,54(4):494-500.
8Foroud T, Pankratz N, Batchman AP, et al. A mutation in myotilin causes spheroid body myopathy[J]. Neurology, 2005, 65(12) :1936- 1940.
9Ferreiro A, Ceuterick de Groote C, Marks JJ, et al. Desminrelated myopathy with Mallory body like inclusions is caused by mutations of the selenoprotein N gene[J]. Ann Neuroi, 2004,55(5) :676 -686.
10Nowak KJ, Sewry CA, Navarro C, et al. Nemaline myopathy caused by absence of alpha-skeletal muscle actin [J]. Ann Neurol,2007,61(2) :175-184.
5Brooke MH, Engel WK. The histographic analysis of human mus- cle biopsies with regard to fiber types. 4. Children's biopsies[ J]. Neurology, 1969, 19(6): 591-605.
6Brook MH. Congenital ( more or less ) muscle disease [ M ]// Brooke MH. A clinician's view of neuromuscular disease. 2nd ed. Baltimore : Williams & Wilkins, 1986 : 340-380.
7Dubowitz V. Congenital myopathies[ M]//The Floppy Infant. 2nd ed. London: WILLIAM Heinemann Medical, 1980: 33-71.
8Sakamoto HM, Yoshioka M, Tsuji M, Kuroki S, Higuchi Y, Non- aka I. A case of congenital neuromuscular disease with uniform type 1 fibers[J]. Brain Dev, 2006, 28(3) : 202-205.
9Clarke NF, Kidson W, Quijano-Roy S, Estoumet B, Ferreim A, Guicheney P, et al. SEPN1 : associated with congenital fiber-type disproportion and insulin resistance [ J ]. Ann Neurol, 2006, 59 (3) : 546-552.
10Kyriakides T, Silberstein JM, Jongpiputvanich S, Silberstein EP, Walsh PJ, Gubbay SS, et al. The clinical significance of type 1 fi- ber predominance[ J]. Muscle Nerve, 1993, 16(4) : 418-423.
