Services and laboratories » Unità Operativa
Semplice – (U.O.S.) Diagnostica
delle Malattie Neuromuscolari » Tissue Bank


Bank of Dna cell line and nerve-muscle-cardiac tissues
Curator: Prof. M. Moggio
Co-responsible: Dr M. Sciacco
The Bank has been partially funded by Telethon foundation since 1999
(present project GTF 02008, 3 year duration).Since January 2002 the
Bank has become one of the partners of the Eurobiobank Network, sponsored
by the European Community, under the Coordination of Eurordis (European
Organization for Rare Disorders).The Bank is held in collaboration
with Prof. N. Bresolin and Dr. G.P. Comi of the Laboratory of Biochemistry
and Molecular Genetics of Dipartimento di Scienze Neurologiche, University
of Milan, Ospedale Maggiore di Milano. (Director Prof. N.Bresolin).
Tel.: 0039-02-55033966
Fax: 0039-02-55033968
E-mail: maurizio.moggio@unimi.it
The Bank is updated December 2007
The existence of selected banks for neuromuscular samples allows the collection of a consistent number of specimens per single disease and therefore examination of the same by experienced people for both research and diagnostic purposes. The Bank presently stocks slides of histology, histochemestry and immunohistochemistry from 8430 bioptic specimens, 4516 skeletal muscle samples, 15 cardiac muscles, over 2620 embedded samples for ultrastructural studies, 421 peripheral nerve specimens for morphological studies. Besides, 3922 muscle specimens for biochemical studies, 2915 DNA samples and 747 muscle cell cultures are also available (see below). All specimens were obtained after informed consent from patients affected with different neuromuscular disorders.-The existence of selected banks for neuromuscular samples allows the collection of a consistent number of specimens per single disease and therefore examination of the same by experienced people for both research and diagnostic purposes.-The Bank routinely accepts biological material from other hospitals or laboratories for genetic, morphological and biochemical analyses.
» For
information see "in
samples”.
The described procedures are expensive and time-consuming and the
amount of sample available is limited. For this reason, the curator
of the Bank needs an appropriate documentation about both diagnostic
and research projects for any sample requested. Also, once the research
work is completed and published, each investigator is requested to
quote the Bank as the source of the samples studied.
» For
information see "out samples”.
Biological Samples
Biological samples are presently classified as follows:
TISSUE SAMPLES, DNA AND CELLS STORED
Muscle = 4516 ; Nerve= 421 DNA= 2915 ;
fibrogenic cell line =409 ;
muscle cell line=338;
Muscle for biochemical studies=3922
Until 30st December 2007
DISEASE |
N. samples
Muscle tissues |
N. samples DNA |
N
Muscle cell lines |
N.
Fibro. cell lines |
OMIM # |
Molecular diagnosis |
Biochem. diagnosis |
Clinical / pathol. diagnosis |
Duchenne dystrophy, DMD |
150 |
198 |
54 |
32 |
310200 |
X |
|
X |
Becker dystrophy, BMD |
64 |
210 |
30 |
21 |
300376 |
X |
X |
|
DMD/BMD carrier |
14 |
9 |
3 |
5 |
310200 |
|
|
X |
Relatives of distrophinopathic pts |
|
381 |
|
|
|
|
|
X |
LGMD2A, calpainopathy |
54 |
46 |
2 |
2 |
253600 |
7/X |
X |
|
LGMD2B, dysferlinopathy |
13 |
58 |
2 |
2 |
253601 |
X |
X |
|
LGMD2C, gamma-sarcoglycanopathy |
2 |
4 |
1 |
1 |
253700 |
X |
|
|
LGMD2D, alpha-sarcoglycanopathy |
5 |
12 |
2 |
2 |
600899 |
X |
|
|
LGMD2E, beta-sarcoglycanopathy |
6 |
9 |
2 |
2 |
604286 |
X |
|
|
LGMD2F, delta-sarcoglycanopathy |
1 |
|
1 |
1 |
601287 |
X |
|
|
LGMD2I, FKRP |
3 |
8 |
1 |
1 |
607155 |
X |
|
|
LGMD1B, LMNA |
|
|
|
|
159001 |
X |
|
|
LGMD1C, caveolinopathy |
33 |
60 |
1 |
1 |
607801 |
X |
|
|
Other LGMD |
54 |
54 |
|
5 |
|
|
|
X |
Facio-scapulo-humeral, FSHD1 |
52 |
|
3 |
1 |
158900 |
X |
|
|
Merosinopathy, LAMA2 |
1 |
|
|
|
607855 |
|
X |
|
Congenital dystrophies |
9 |
9 |
|
|
|
X |
|
X |
Myotonic dystrophy, Steinert, DM1 |
47 |
21 |
3 |
2 |
160900 |
X |
|
|
Thomsen/Becker disease CLCN1 channel |
2 |
2 |
|
|
160800/ 255700 |
X |
|
|
Selenoproteine (SEPN1) |
|
3 |
|
|
|
X |
|
|
Hypokaliemic periodic paralysis |
6 |
|
|
|
170400 |
|
|
X |
Oculo-pharyngeal |
3 |
3 |
1 |
|
164300 |
X |
|
|
Nemaline myopathy |
1 |
|
1 |
1 |
256030 |
|
|
X |
Centralcore myopathy |
4 |
|
1 |
1 |
117000 |
|
|
X |
Minicore myopathy |
1 |
|
1 |
1 |
|
|
|
X |
Centronuclear myopathy |
|
|
|
|
602378 |
|
|
X |
Myotubular myopathy, MTMX |
5 |
|
1 |
1 |
310400 |
X |
|
|
Fiber type disproportion |
4 |
|
|
|
|
|
|
X |
Myophibrillar myopathies |
7 |
|
2 |
3 |
|
|
|
X |
Tubular aggregates |
11 |
|
|
|
|
|
|
X |
Morbo di Basedow |
2 |
|
|
|
|
|
|
|
Glycogenosis type II, Pompe |
54 |
3 |
10 |
20 |
232300 |
23X |
33X |
|
Glycogenosis type V, Mc Ardle |
16 |
|
10 |
10 |
232600 |
5X |
14X |
|
Glycogenosis type III |
9 |
45 |
10 |
10 |
232400 |
X |
X |
2X |
Glycogenosis type VII |
1 |
|
5 |
5 |
232800 |
|
X |
|
Glycogenosis type X |
1 |
3 |
|
|
232500 |
X |
X |
|
Glycogenosis type XIII |
1 |
|
|
|
|
|
X |
|
G6PD deficiency |
4/11 |
|
|
|
305900 |
4X |
11X |
|
MAD deficiency |
31 |
6 |
|
|
|
|
X |
|
MELAS/MERRF |
24 |
38 |
5/5 |
5/5 |
540000/
545000 |
X |
|
|
PEO 3243 |
8 |
8 |
|
|
|
X |
|
|
Leber |
4 |
37 |
|
|
53500 |
X |
|
|
NARP |
2 |
3 |
|
|
551500 |
X |
|
|
mt-DNA Macrodeletions |
88 |
9 |
25 |
24 |
|
X |
|
|
Mt-DNA multiple deletions |
82 |
130 |
30 |
30 |
|
X |
|
|
Mt-DNA depletion |
9 |
15 |
|
|
|
X |
|
|
Other mt-DNA point mutations |
12 |
42 |
|
|
|
X |
|
|
Other mitochondrial disorders |
89 |
108 |
|
|
|
|
X |
|
Lipid storage myopathy |
36 |
4 |
|
|
|
|
X |
X |
L-CAD deficiency |
6 |
|
|
|
|
|
X |
|
M-CAD deficiency |
1 |
|
|
|
|
|
x |
|
CPT deficiency |
10 |
35 |
|
|
255110 |
X |
X |
|
Inflammatory myopathies |
433 |
|
20 |
18 |
|
|
|
X |
IBM |
37 |
8 |
4 |
3 |
|
|
|
X |
Critical illness myopathy |
10 |
|
|
|
|
|
|
X |
Myasthenia gravis |
13 |
|
1 |
|
|
|
|
X |
Malignant hyperthermia |
12 |
192 |
|
|
|
x |
|
|
Essential hyperCkemia |
136 |
10 |
27 |
59 |
|
|
|
X |
Spinal muscular atrophy, SMA-1,2,3 |
52 |
52 |
2 |
12 |
253550 |
X |
|
|
Spinal bulbar muscular atrophy, Kennedy |
1 |
4 |
|
|
313200 |
X |
|
|
ALS/ Motor neuron disease |
140 |
81 |
2 |
9 |
|
|
|
X |
Mild non specific myopathic signs |
748 |
757 |
|
|
|
|
|
X |
Mild non specific neurogenic signs |
650 |
|
|
|
|
|
|
X |
Normal muscle biopsies |
876 |
|
68 |
80 |
|
|
|
X |
| |
|
|
|
|
|
|
|
|
DISEASE |
N. samples
heart tissues |
N. samples DNA |
N
Muscle cell lines |
N.
Fibro cell lines |
OMIM # |
Molecular diagnosis |
Biochem. diagnosis |
Clinical / pathol. diagnosis |
Dilatative idiopathic cardiomyopathy |
5 |
|
|
|
|
|
|
X |
Secondary dilatative cardiomyopathy |
3 |
|
|
|
|
|
|
X |
Myocarditis |
3 |
|
|
|
|
|
|
X |
Ischemic cardiopathy |
4 |
|
|
|
|
|
|
X |
| |
|
|
|
|
|
|
|
|
DISEASE |
N. samples nerve tissues |
N. samples DNA |
N
Muscle cell line |
N.
Fibro. cell line |
OMIM # |
Molecular diagnosis |
Biochem. diagnosis |
Clinical / pathol. diagnosis |
Degenerative neuropathy ( hereditary and acquired) |
364 |
|
|
|
|
|
|
X |
Inflammatory neuropathy |
38 |
|
|
|
|
|
|
X |
Normal nerve biopsy |
21 |
|
|
|
|
|
|
X |
Spastic paraparesis
(Paraplegin def.))
|
|
1 |
8 |
1 |
1 |
602783 |
X |
|
|
S di Down |
1 |
186 |
|
36 |
|
X |
|
X |
|