Università
degli Studi
di Milano
Centro Dino Ferrari
Ospedale
Maggiore
di Milano
Dipartimento di Scienze Neurologiche, Università degli Studi di Milano - IRCCS Opsedale Maggiore Policlinico di Milano
 
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Services and laboratories » Unità Operativa Semplice – (U.O.S.) Diagnostica delle Malattie Neuromuscolari » Tissue Bank

Sincert - BVQI

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

 
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