References
- 1
Bolland E, Manzur A Y, Milward T M, Muntoni F.
Velocardiofacial syndrome associated with atrophy of the shoulder girdle muscles and
cervicomedullary narrowing.
Europ J Paediatr Neurol.
2000;
4
73-76
- 2
Cormier-Daire V, Iserin L, Théophile D, Sidi D, Vervel C, Padovani J P. et al .
Upper limb malformations in DiGeorge syndrome.
Am J Med Genet.
1995;
56
39-41
- 3
Kasprzak L, Der Kaloustian V M, Elliott A M, Shevell L, Lejtenyi C, Eydoux P.
Deletion of 22 q11 in two brothers with different phenotypes.
Am J Med Genet.
1998;
75
288-291
- 4
Moldavsky M, Lerman-Sagie T, Kutai M, Legum C, Harel S.
Heterogeneity in adducted thumbs sequence.
Am J Med Genet.
1997;
70
114-117
- 5
Payne C M, Curless R G.
Concentric laminated bodies. Ultrastructural demonstration of muscle type specificity.
J Neurol Sci.
1976;
29
311-322
- 6
Prasad C, Quackenbush E J, Whiteman D, Korf B.
Limb anomalies in DiGeorge and CHARGE syndromes.
Am J Med Genet.
1997;
68
179-181
- 7
Ravnan J B, Chen E, Golabi M, Lebo R V.
Chromosome 22 q11. 2 microdeletions in velocardiofacial syndrome patients with widely
variable manifestations.
Am J Med Genet.
1996;
66
250-256
- 8
Ryan A K, Goodship J A, Wilson D I, Philip N, Levy A Q, Seidel H. et al .
Spectrum of clinical features associated with interstitial chromosome 22 q11 deletions:
a European collaborative study.
J Med Genet.
1997;
34
798-804
- 9
Sergi C, Serpi M, Mueller-Navia J, Schnabel P A, Hagl S, Otto H F, Ulmer H E.
CATCH 22 syndrome: report of 7 infants with follow-up data and review of the recent
advancements in the genetic knowledge of the locus 22 q11.
Pathologica.
1999;
91
166-172
- 10
Yarom R, Shapira Y.
Concentric laminated bodies.
Muscle & Nerve.
1981;
4
259-260
Dr. L. Palmucci
Centro per le Malattie Neuromuscolari P. Peirolo
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